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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1488513998

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:140668411 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000004 (1/264690, TOPMED)
G=0.000004 (1/248142, GnomAD_exome)
G=0.00003 (1/31926, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PTK2 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 31926 T=0.99997 G=0.00003 0.999937 0.0 6.3e-05 0
European Sub 23744 T=1.00000 G=0.00000 1.0 0.0 0.0 N/A
African Sub 2314 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 T=1.00 G=0.00 1.0 0.0 0.0 N/A
African American Sub 2230 T=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 T=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 500 T=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 628 T=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 T=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 4538 T=0.9998 G=0.0002 0.999559 0.0 0.000441 0


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.999996 G=0.000004
gnomAD - Exomes Global Study-wide 248142 T=0.999996 G=0.000004
gnomAD - Exomes European Sub 133612 T=0.999993 G=0.000007
gnomAD - Exomes Asian Sub 48452 T=1.00000 G=0.00000
gnomAD - Exomes American Sub 34092 T=1.00000 G=0.00000
gnomAD - Exomes African Sub 16226 T=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9740 T=1.0000 G=0.0000
gnomAD - Exomes Other Sub 6020 T=1.0000 G=0.0000
Allele Frequency Aggregator Total Global 31926 T=0.99997 G=0.00003
Allele Frequency Aggregator European Sub 23744 T=1.00000 G=0.00000
Allele Frequency Aggregator Other Sub 4538 T=0.9998 G=0.0002
Allele Frequency Aggregator African Sub 2314 T=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 T=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 T=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 T=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 T=1.00 G=0.00
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 8 NC_000008.11:g.140668411T>G
GRCh37.p13 chr 8 NC_000008.10:g.141678510T>G
PTK2 RefSeqGene NG_029467.2:g.337903A>C
Gene: PTK2, protein tyrosine kinase 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PTK2 transcript variant 59 NM_001352748.2:c. N/A Genic Downstream Transcript Variant
PTK2 transcript variant 72 NM_001387588.1:c. N/A Genic Downstream Transcript Variant
PTK2 transcript variant 73 NM_001387589.1:c. N/A Genic Downstream Transcript Variant
PTK2 transcript variant 125 NM_001387651.1:c. N/A Genic Downstream Transcript Variant
PTK2 transcript variant 40 NM_001352729.2:c.2600A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 24 NP_001339658.1:p.Glu867Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 35 NM_001352724.2:c.2771A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 19 NP_001339653.1:p.Glu924Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 39 NM_001352728.2:c.2615A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 23 NP_001339657.1:p.Glu872Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 17 NM_001352706.2:c.2771A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 10 NP_001339635.1:p.Glu924Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 63 NM_001352752.2:c.590A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 45 NP_001339681.1:p.Glu197Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 2 NM_005607.5:c.2789A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 2 NP_005598.3:p.Glu930Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 45 NM_001352734.2:c.2453A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 29 NP_001339663.1:p.Glu818Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 26 NM_001352715.2:c.2750A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 14 NP_001339644.1:p.Glu917Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 56 NM_001352745.2:c.2306A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 38 NP_001339674.1:p.Glu769Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 6 NM_001352695.2:c.2762A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 48 NP_001339624.1:p.Glu921Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 61 NM_001352750.2:c.653A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 43 NP_001339679.1:p.Glu218Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 62 NM_001352751.2:c.599A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 44 NP_001339680.1:p.Glu200Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 46 NM_001352735.2:c.2453A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 46 NP_001339664.1:p.Glu818Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 53 NM_001352742.2:c.2369A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 36 NP_001339671.1:p.Glu790Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 13 NM_001352702.2:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 7 NP_001339631.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 12 NM_001352701.2:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 7 NP_001339630.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 50 NM_001352739.2:c.2414A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 33 NP_001339668.1:p.Glu805Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 48 NM_001352737.2:c.2486A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 31 NP_001339666.1:p.Glu829Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 22 NM_001352711.2:c.2768A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 11 NP_001339640.1:p.Glu923Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 43 NM_001352732.2:c.2507A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 27 NP_001339661.1:p.Glu836Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 42 NM_001352731.2:c.2510A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 26 NP_001339660.1:p.Glu837Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 33 NM_001352722.2:c.2708A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 18 NP_001339651.1:p.Glu903Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 16 NM_001352705.2:c.2810A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 9 NP_001339634.1:p.Glu937Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 20 NM_001352709.2:c.2771A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 10 NP_001339638.1:p.Glu924Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 31 NM_001352720.2:c.2732A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 17 NP_001339649.1:p.Glu911Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 11 NM_001352700.2:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 7 NP_001339629.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 21 NM_001352710.2:c.2771A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 10 NP_001339639.1:p.Glu924Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 27 NM_001352716.2:c.2747A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 15 NP_001339645.1:p.Glu916Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 28 NM_001352717.2:c.2741A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 16 NP_001339646.1:p.Glu914Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 19 NM_001352708.2:c.2771A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 10 NP_001339637.1:p.Glu924Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 41 NM_001352730.2:c.2516A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 25 NP_001339659.1:p.Glu839Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 5 NM_001352694.2:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001339623.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 30 NM_001352719.2:c.2732A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 17 NP_001339648.1:p.Glu911Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 4 NM_001316342.2:c.2432A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 4 NP_001303271.1:p.Glu811Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 8 NM_001352697.2:c.2915A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 5 NP_001339626.1:p.Glu972Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 3 NM_001199649.2:c.2762A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 3 NP_001186578.1:p.Glu921Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 36 NM_001352725.2:c.2669A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 20 NP_001339654.1:p.Glu890Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 44 NM_001352733.2:c.2495A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 28 NP_001339662.1:p.Glu832Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 23 NM_001352712.2:c.2846A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 12 NP_001339641.1:p.Glu949Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 38 NM_001352727.2:c.2708A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 22 NP_001339656.1:p.Glu903Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 51 NM_001352740.2:c.2411A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 34 NP_001339669.1:p.Glu804Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 25 NM_001352714.2:c.2753A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 13 NP_001339643.1:p.Glu918Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 18 NM_001352707.2:c.2771A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 10 NP_001339636.1:p.Glu924Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 57 NM_001352746.2:c.2261A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 39 NP_001339675.1:p.Glu754Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 54 NM_001352743.2:c.2369A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 47 NP_001339672.1:p.Glu790Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 10 NM_001352699.2:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 7 NP_001339628.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 55 NM_001352744.2:c.2324A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 37 NP_001339673.1:p.Glu775Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 32 NM_001352721.2:c.2708A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 18 NP_001339650.1:p.Glu903Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 14 NM_001352703.2:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 7 NP_001339632.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 37 NM_001352726.2:c.2663A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 21 NP_001339655.1:p.Glu888Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 7 NM_001352696.2:c.2432A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 4 NP_001339625.1:p.Glu811Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 47 NM_001352736.2:c.2447A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 30 NP_001339665.1:p.Glu816Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 60 NM_001352749.2:c.662A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 42 NP_001339678.1:p.Glu221Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 58 NM_001352747.2:c.1310A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 40 NP_001339676.1:p.Glu437Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 52 NM_001352741.2:c.2393A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 35 NP_001339670.1:p.Glu798Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 24 NM_001352713.2:c.2753A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 13 NP_001339642.1:p.Glu918Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 9 NM_001352698.2:c.2894A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 6 NP_001339627.1:p.Glu965Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 34 NM_001352723.2:c.2708A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 18 NP_001339652.1:p.Glu903Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 15 NM_001352704.2:c.2834A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 8 NP_001339633.1:p.Glu945Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 49 NM_001352738.2:c.2426A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 32 NP_001339667.1:p.Glu809Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 1 NM_153831.4:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_722560.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 29 NM_001352718.2:c.2732A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 17 NP_001339647.1:p.Glu911Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 74 NM_001387590.1:c.2276A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 53 NP_001374519.1:p.Glu759Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 76 NM_001387592.1:c.1781A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 71 NP_001374521.1:p.Glu594Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 105 NM_001387631.1:c.2747A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 15 NP_001374560.1:p.Glu916Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 127 NM_001387653.1:c.2615A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 23 NP_001374582.1:p.Glu872Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 85 NM_001387611.1:c.2402A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 57 NP_001374540.1:p.Glu801Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 78 NM_001387604.1:c.1790A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 49 NP_001374533.1:p.Glu597Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 130 NM_001387656.1:c.2669A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 20 NP_001374585.1:p.Glu890Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 124 NM_001387650.1:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 65 NP_001374579.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 109 NM_001387635.1:c.2276A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 53 NP_001374564.1:p.Glu759Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 120 NM_001387646.1:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 65 NP_001374575.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 103 NM_001387629.1:c.1808A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 50 NP_001374558.1:p.Glu603Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 69 NM_001387585.1:c.2660A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 59 NP_001374514.1:p.Glu887Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 70 NM_001387586.1:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001374515.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 71 NM_001387587.1:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001374516.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 88 NM_001387614.1:c.2660A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 59 NP_001374543.1:p.Glu887Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 96 NM_001387622.1:c.2741A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 16 NP_001374551.1:p.Glu914Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 102 NM_001387628.1:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001374557.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 106 NM_001387632.1:c.2660A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 59 NP_001374561.1:p.Glu887Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 108 NM_001387634.1:c.2750A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 14 NP_001374563.1:p.Glu917Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 110 NM_001387636.1:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001374565.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 111 NM_001387637.1:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001374566.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 112 NM_001387638.1:c.2732A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 17 NP_001374567.1:p.Glu911Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 113 NM_001387639.1:c.2771A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 10 NP_001374568.1:p.Glu924Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 116 NM_001387642.1:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001374571.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 119 NM_001387645.1:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001374574.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 121 NM_001387647.1:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001374576.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 129 NM_001387655.1:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001374584.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 131 NM_001387657.1:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001374586.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 132 NM_001387658.1:c.2723A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 1 NP_001374587.1:p.Glu908Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 133 NM_001387659.1:c.2732A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 17 NP_001374588.1:p.Glu911Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 81 NM_001387607.1:c.2423A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 58 NP_001374536.1:p.Glu808Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 91 NM_001387617.1:c.1781A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 71 NP_001374546.1:p.Glu594Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 99 NM_001387625.1:c.2669A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 20 NP_001374554.1:p.Glu890Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 134 NM_001387660.1:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 65 NP_001374589.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 123 NM_001387649.1:c.2903A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 63 NP_001374578.1:p.Glu968Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 68 NM_001387584.1:c.2384A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 56 NP_001374513.1:p.Glu795Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 92 NM_001387618.1:c.2384A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 56 NP_001374547.1:p.Glu795Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 77 NM_001387603.1:c.2330A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 55 NP_001374532.1:p.Glu777Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 83 NM_001387609.1:c.2393A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 35 NP_001374538.1:p.Glu798Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 98 NM_001387624.1:c.2747A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 15 NP_001374553.1:p.Glu916Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 82 NM_001387608.1:c.2384A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 56 NP_001374537.1:p.Glu795Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 122 NM_001387648.1:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 65 NP_001374577.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 126 NM_001387652.1:c.2384A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 56 NP_001374581.1:p.Glu795Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 75 NM_001387591.1:c.2321A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 54 NP_001374520.1:p.Glu774Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 101 NM_001387627.1:c.2678A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 60 NP_001374556.1:p.Glu893Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 80 NM_001387606.1:c.2414A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 33 NP_001374535.1:p.Glu805Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 107 NM_001387633.1:c.2690A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 68 NP_001374562.1:p.Glu897Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 104 NM_001387630.1:c.2201A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 52 NP_001374559.1:p.Glu734Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 136 NM_001387662.1:c.2864A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 61 NP_001374591.1:p.Glu955Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 135 NM_001387661.1:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 65 NP_001374590.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 87 NM_001387613.1:c.2393A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 35 NP_001374542.1:p.Glu798Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 95 NM_001387621.1:c.1781A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 71 NP_001374550.1:p.Glu594Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 90 NM_001387616.1:c.1781A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 71 NP_001374545.1:p.Glu594Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 86 NM_001387612.1:c.2384A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 56 NP_001374541.1:p.Glu795Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 128 NM_001387654.1:c.2384A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 56 NP_001374583.1:p.Glu795Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 97 NM_001387623.1:c.2384A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 56 NP_001374552.1:p.Glu795Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 114 NM_001387640.1:c.2792A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 64 NP_001374569.1:p.Glu931Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 115 NM_001387641.1:c.2762A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 72 NP_001374570.1:p.Glu921Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 117 NM_001387643.1:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 65 NP_001374572.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 84 NM_001387610.1:c.2201A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 52 NP_001374539.1:p.Glu734Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 89 NM_001387615.1:c.2663A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 21 NP_001374544.1:p.Glu888Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 94 NM_001387620.1:c.2432A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 4 NP_001374549.1:p.Glu811Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 93 NM_001387619.1:c.2615A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 23 NP_001374548.1:p.Glu872Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 79 NM_001387605.1:c.2384A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 56 NP_001374534.1:p.Glu795Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 118 NM_001387644.1:c.2873A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform 62 NP_001374573.1:p.Glu958Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant 66 NR_148038.2:n.2771A>C N/A Non Coding Transcript Variant
PTK2 transcript variant 67 NR_148039.2:n.2663A>C N/A Non Coding Transcript Variant
PTK2 transcript variant 64 NR_148036.2:n.3022A>C N/A Non Coding Transcript Variant
PTK2 transcript variant 65 NR_148037.2:n.3053A>C N/A Non Coding Transcript Variant
PTK2 transcript variant 138 NR_170671.1:n.2634A>C N/A Non Coding Transcript Variant
PTK2 transcript variant 140 NR_170673.1:n.3011A>C N/A Non Coding Transcript Variant
PTK2 transcript variant 139 NR_170672.1:n.2801A>C N/A Non Coding Transcript Variant
PTK2 transcript variant 137 NR_170670.1:n. N/A Genic Downstream Transcript Variant
PTK2 transcript variant X1 XM_047422016.1:c.3008A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X1 XP_047277972.1:p.Glu1003A…

XP_047277972.1:p.Glu1003Ala

E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X2 XM_047422017.1:c.2999A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X2 XP_047277973.1:p.Glu1000A…

XP_047277973.1:p.Glu1000Ala

E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X3 XM_047422018.1:c.2987A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X3 XP_047277974.1:p.Glu996Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X4 XM_047422019.1:c.2987A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X4 XP_047277975.1:p.Glu996Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X5 XM_047422020.1:c.2987A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X4 XP_047277976.1:p.Glu996Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X6 XM_047422021.1:c.2987A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X4 XP_047277977.1:p.Glu996Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X7 XM_047422022.1:c.2978A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X5 XP_047277978.1:p.Glu993Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X8 XM_047422023.1:c.2945A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X6 XP_047277979.1:p.Glu982Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X9 XM_047422024.1:c.2936A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X7 XP_047277980.1:p.Glu979Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X10 XM_047422025.1:c.2924A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X8 XP_047277981.1:p.Glu975Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X11 XM_047422026.1:c.2915A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X9 XP_047277982.1:p.Glu972Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X12 XM_047422027.1:c.2915A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X10 XP_047277983.1:p.Glu972Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X13 XM_047422028.1:c.2915A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X11 XP_047277984.1:p.Glu972Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X14 XM_047422029.1:c.2906A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X12 XP_047277985.1:p.Glu969Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X15 XM_047422030.1:c.2903A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X13 XP_047277986.1:p.Glu968Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X16 XM_047422031.1:c.2903A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X14 XP_047277987.1:p.Glu968Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X17 XM_047422032.1:c.2900A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X15 XP_047277988.1:p.Glu967Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X18 XM_024447202.2:c.2897A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X16 XP_024302970.1:p.Glu966Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X19 XM_024447203.2:c.2894A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X17 XP_024302971.1:p.Glu965Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X20 XM_047422033.1:c.2885A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X18 XP_047277989.1:p.Glu962Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X21 XM_047422034.1:c.2885A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X19 XP_047277990.1:p.Glu962Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X22 XM_047422035.1:c.2876A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X20 XP_047277991.1:p.Glu959Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X23 XM_047422036.1:c.2876A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X21 XP_047277992.1:p.Glu959Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X24 XM_047422037.1:c.2864A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X22 XP_047277993.1:p.Glu955Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X25 XM_047422038.1:c.2861A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X23 XP_047277994.1:p.Glu954Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X26 XM_047422039.1:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X24 XP_047277995.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X27 XM_047422040.1:c.2843A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X25 XP_047277996.1:p.Glu948Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X28 XM_047422041.1:c.2831A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X26 XP_047277997.1:p.Glu944Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X29 XM_024447207.2:c.2822A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X27 XP_024302975.1:p.Glu941Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X30 XM_024447208.2:c.2816A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X28 XP_024302976.1:p.Glu939Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X31 XM_047422043.1:c.2813A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X29 XP_047277999.1:p.Glu938Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X32 XM_024447209.2:c.2798A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X30 XP_024302977.1:p.Glu933Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X33 XM_047422044.1:c.2771A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X31 XP_047278000.1:p.Glu924Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X34 XM_047422045.1:c.2768A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X32 XP_047278001.1:p.Glu923Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X35 XM_047422046.1:c.2753A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X33 XP_047278002.1:p.Glu918Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X36 XM_047422047.1:c.2747A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X34 XP_047278003.1:p.Glu916Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X37 XM_047422048.1:c.2552A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X35 XP_047278004.1:p.Glu851Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X38 XM_047422049.1:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X24 XP_047278005.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X39 XM_047422050.1:c.2516A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X36 XP_047278006.1:p.Glu839Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X40 XM_047422052.1:c.2507A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X37 XP_047278008.1:p.Glu836Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X41 XM_047422053.1:c.2855A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X24 XP_047278009.1:p.Glu952Ala E (Glu) > A (Ala) Missense Variant
PTK2 transcript variant X42 XM_047422054.1:c.2414A>C E [GAA] > A [GCA] Coding Sequence Variant
focal adhesion kinase 1 isoform X38 XP_047278010.1:p.Glu805Ala E (Glu) > A (Ala) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= G
GRCh38.p14 chr 8 NC_000008.11:g.140668411= NC_000008.11:g.140668411T>G
GRCh37.p13 chr 8 NC_000008.10:g.141678510= NC_000008.10:g.141678510T>G
PTK2 RefSeqGene NG_029467.2:g.337903= NG_029467.2:g.337903A>C
PTK2 transcript variant 2 NM_005607.5:c.2789= NM_005607.5:c.2789A>C
PTK2 transcript variant 2 NM_005607.4:c.2789= NM_005607.4:c.2789A>C
PTK2 transcript variant 1 NM_153831.4:c.2723= NM_153831.4:c.2723A>C
PTK2 transcript variant 1 NM_153831.3:c.2723= NM_153831.3:c.2723A>C
PTK2 transcript variant 8 NM_001352697.2:c.2915= NM_001352697.2:c.2915A>C
PTK2 transcript variant 8 NM_001352697.1:c.2915= NM_001352697.1:c.2915A>C
PTK2 transcript variant 9 NM_001352698.2:c.2894= NM_001352698.2:c.2894A>C
PTK2 transcript variant 9 NM_001352698.1:c.2894= NM_001352698.1:c.2894A>C
PTK2 transcript variant 16 NM_001352705.2:c.2810= NM_001352705.2:c.2810A>C
PTK2 transcript variant 16 NM_001352705.1:c.2810= NM_001352705.1:c.2810A>C
PTK2 transcript variant 23 NM_001352712.2:c.2846= NM_001352712.2:c.2846A>C
PTK2 transcript variant 23 NM_001352712.1:c.2846= NM_001352712.1:c.2846A>C
PTK2 transcript variant 12 NM_001352701.2:c.2855= NM_001352701.2:c.2855A>C
PTK2 transcript variant 12 NM_001352701.1:c.2855= NM_001352701.1:c.2855A>C
PTK2 transcript variant 14 NM_001352703.2:c.2855= NM_001352703.2:c.2855A>C
PTK2 transcript variant 14 NM_001352703.1:c.2855= NM_001352703.1:c.2855A>C
PTK2 transcript variant 58 NM_001352747.2:c.1310= NM_001352747.2:c.1310A>C
PTK2 transcript variant 58 NM_001352747.1:c.1310= NM_001352747.1:c.1310A>C
PTK2 transcript variant 13 NM_001352702.2:c.2855= NM_001352702.2:c.2855A>C
PTK2 transcript variant 13 NM_001352702.1:c.2855= NM_001352702.1:c.2855A>C
PTK2 transcript variant 15 NM_001352704.2:c.2834= NM_001352704.2:c.2834A>C
PTK2 transcript variant 15 NM_001352704.1:c.2834= NM_001352704.1:c.2834A>C
PTK2 transcript variant 18 NM_001352707.2:c.2771= NM_001352707.2:c.2771A>C
PTK2 transcript variant 18 NM_001352707.1:c.2771= NM_001352707.1:c.2771A>C
PTK2 transcript variant 65 NR_148037.2:n.3053= NR_148037.2:n.3053A>C
PTK2 transcript variant 65 NR_148037.1:n.3084= NR_148037.1:n.3084A>C
PTK2 transcript variant 20 NM_001352709.2:c.2771= NM_001352709.2:c.2771A>C
PTK2 transcript variant 20 NM_001352709.1:c.2771= NM_001352709.1:c.2771A>C
PTK2 transcript variant 11 NM_001352700.2:c.2855= NM_001352700.2:c.2855A>C
PTK2 transcript variant 11 NM_001352700.1:c.2855= NM_001352700.1:c.2855A>C
PTK2 transcript variant 10 NM_001352699.2:c.2855= NM_001352699.2:c.2855A>C
PTK2 transcript variant 10 NM_001352699.1:c.2855= NM_001352699.1:c.2855A>C
PTK2 transcript variant 6 NM_001352695.2:c.2762= NM_001352695.2:c.2762A>C
PTK2 transcript variant 6 NM_001352695.1:c.2762= NM_001352695.1:c.2762A>C
PTK2 transcript variant 3 NM_001199649.2:c.2762= NM_001199649.2:c.2762A>C
PTK2 transcript variant 3 NM_001199649.1:c.2762= NM_001199649.1:c.2762A>C
PTK2 transcript variant 25 NM_001352714.2:c.2753= NM_001352714.2:c.2753A>C
PTK2 transcript variant 25 NM_001352714.1:c.2753= NM_001352714.1:c.2753A>C
PTK2 transcript variant 27 NM_001352716.2:c.2747= NM_001352716.2:c.2747A>C
PTK2 transcript variant 27 NM_001352716.1:c.2747= NM_001352716.1:c.2747A>C
PTK2 transcript variant 64 NR_148036.2:n.3022= NR_148036.2:n.3022A>C
PTK2 transcript variant 64 NR_148036.1:n.3053= NR_148036.1:n.3053A>C
PTK2 transcript variant 28 NM_001352717.2:c.2741= NM_001352717.2:c.2741A>C
PTK2 transcript variant 28 NM_001352717.1:c.2741= NM_001352717.1:c.2741A>C
PTK2 transcript variant 19 NM_001352708.2:c.2771= NM_001352708.2:c.2771A>C
PTK2 transcript variant 19 NM_001352708.1:c.2771= NM_001352708.1:c.2771A>C
PTK2 transcript variant 21 NM_001352710.2:c.2771= NM_001352710.2:c.2771A>C
PTK2 transcript variant 21 NM_001352710.1:c.2771= NM_001352710.1:c.2771A>C
PTK2 transcript variant 29 NM_001352718.2:c.2732= NM_001352718.2:c.2732A>C
PTK2 transcript variant 29 NM_001352718.1:c.2732= NM_001352718.1:c.2732A>C
PTK2 transcript variant 36 NM_001352725.2:c.2669= NM_001352725.2:c.2669A>C
PTK2 transcript variant 36 NM_001352725.1:c.2669= NM_001352725.1:c.2669A>C
PTK2 transcript variant 34 NM_001352723.2:c.2708= NM_001352723.2:c.2708A>C
PTK2 transcript variant 34 NM_001352723.1:c.2708= NM_001352723.1:c.2708A>C
PTK2 transcript variant 30 NM_001352719.2:c.2732= NM_001352719.2:c.2732A>C
PTK2 transcript variant 30 NM_001352719.1:c.2732= NM_001352719.1:c.2732A>C
PTK2 transcript variant 35 NM_001352724.2:c.2771= NM_001352724.2:c.2771A>C
PTK2 transcript variant 35 NM_001352724.1:c.2771= NM_001352724.1:c.2771A>C
PTK2 transcript variant 42 NM_001352731.2:c.2510= NM_001352731.2:c.2510A>C
PTK2 transcript variant 42 NM_001352731.1:c.2510= NM_001352731.1:c.2510A>C
PTK2 transcript variant 17 NM_001352706.2:c.2771= NM_001352706.2:c.2771A>C
PTK2 transcript variant 17 NM_001352706.1:c.2771= NM_001352706.1:c.2771A>C
PTK2 transcript variant 22 NM_001352711.2:c.2768= NM_001352711.2:c.2768A>C
PTK2 transcript variant 22 NM_001352711.1:c.2768= NM_001352711.1:c.2768A>C
PTK2 transcript variant 33 NM_001352722.2:c.2708= NM_001352722.2:c.2708A>C
PTK2 transcript variant 33 NM_001352722.1:c.2708= NM_001352722.1:c.2708A>C
PTK2 transcript variant 24 NM_001352713.2:c.2753= NM_001352713.2:c.2753A>C
PTK2 transcript variant 24 NM_001352713.1:c.2753= NM_001352713.1:c.2753A>C
PTK2 transcript variant 37 NM_001352726.2:c.2663= NM_001352726.2:c.2663A>C
PTK2 transcript variant 37 NM_001352726.1:c.2663= NM_001352726.1:c.2663A>C
PTK2 transcript variant 26 NM_001352715.2:c.2750= NM_001352715.2:c.2750A>C
PTK2 transcript variant 26 NM_001352715.1:c.2750= NM_001352715.1:c.2750A>C
PTK2 transcript variant 48 NM_001352737.2:c.2486= NM_001352737.2:c.2486A>C
PTK2 transcript variant 48 NM_001352737.1:c.2486= NM_001352737.1:c.2486A>C
PTK2 transcript variant 31 NM_001352720.2:c.2732= NM_001352720.2:c.2732A>C
PTK2 transcript variant 31 NM_001352720.1:c.2732= NM_001352720.1:c.2732A>C
PTK2 transcript variant 5 NM_001352694.2:c.2723= NM_001352694.2:c.2723A>C
PTK2 transcript variant 5 NM_001352694.1:c.2723= NM_001352694.1:c.2723A>C
PTK2 transcript variant 32 NM_001352721.2:c.2708= NM_001352721.2:c.2708A>C
PTK2 transcript variant 32 NM_001352721.1:c.2708= NM_001352721.1:c.2708A>C
PTK2 transcript variant 50 NM_001352739.2:c.2414= NM_001352739.2:c.2414A>C
PTK2 transcript variant 50 NM_001352739.1:c.2414= NM_001352739.1:c.2414A>C
PTK2 transcript variant 7 NM_001352696.2:c.2432= NM_001352696.2:c.2432A>C
PTK2 transcript variant 7 NM_001352696.1:c.2432= NM_001352696.1:c.2432A>C
PTK2 transcript variant 41 NM_001352730.2:c.2516= NM_001352730.2:c.2516A>C
PTK2 transcript variant 41 NM_001352730.1:c.2516= NM_001352730.1:c.2516A>C
PTK2 transcript variant 46 NM_001352735.2:c.2453= NM_001352735.2:c.2453A>C
PTK2 transcript variant 46 NM_001352735.1:c.2453= NM_001352735.1:c.2453A>C
PTK2 transcript variant 43 NM_001352732.2:c.2507= NM_001352732.2:c.2507A>C
PTK2 transcript variant 43 NM_001352732.1:c.2507= NM_001352732.1:c.2507A>C
PTK2 transcript variant 47 NM_001352736.2:c.2447= NM_001352736.2:c.2447A>C
PTK2 transcript variant 47 NM_001352736.1:c.2447= NM_001352736.1:c.2447A>C
PTK2 transcript variant 51 NM_001352740.2:c.2411= NM_001352740.2:c.2411A>C
PTK2 transcript variant 51 NM_001352740.1:c.2411= NM_001352740.1:c.2411A>C
PTK2 transcript variant 44 NM_001352733.2:c.2495= NM_001352733.2:c.2495A>C
PTK2 transcript variant 44 NM_001352733.1:c.2495= NM_001352733.1:c.2495A>C
PTK2 transcript variant 54 NM_001352743.2:c.2369= NM_001352743.2:c.2369A>C
PTK2 transcript variant 54 NM_001352743.1:c.2369= NM_001352743.1:c.2369A>C
PTK2 transcript variant 38 NM_001352727.2:c.2708= NM_001352727.2:c.2708A>C
PTK2 transcript variant 38 NM_001352727.1:c.2708= NM_001352727.1:c.2708A>C
PTK2 transcript variant 45 NM_001352734.2:c.2453= NM_001352734.2:c.2453A>C
PTK2 transcript variant 45 NM_001352734.1:c.2453= NM_001352734.1:c.2453A>C
PTK2 transcript variant 39 NM_001352728.2:c.2615= NM_001352728.2:c.2615A>C
PTK2 transcript variant 39 NM_001352728.1:c.2615= NM_001352728.1:c.2615A>C
PTK2 transcript variant 4 NM_001316342.2:c.2432= NM_001316342.2:c.2432A>C
PTK2 transcript variant 4 NM_001316342.1:c.2432= NM_001316342.1:c.2432A>C
PTK2 transcript variant 40 NM_001352729.2:c.2600= NM_001352729.2:c.2600A>C
PTK2 transcript variant 40 NM_001352729.1:c.2600= NM_001352729.1:c.2600A>C
PTK2 transcript variant 49 NM_001352738.2:c.2426= NM_001352738.2:c.2426A>C
PTK2 transcript variant 49 NM_001352738.1:c.2426= NM_001352738.1:c.2426A>C
PTK2 transcript variant 66 NR_148038.2:n.2771= NR_148038.2:n.2771A>C
PTK2 transcript variant 66 NR_148038.1:n.2802= NR_148038.1:n.2802A>C
PTK2 transcript variant 52 NM_001352741.2:c.2393= NM_001352741.2:c.2393A>C
PTK2 transcript variant 52 NM_001352741.1:c.2393= NM_001352741.1:c.2393A>C
PTK2 transcript variant 53 NM_001352742.2:c.2369= NM_001352742.2:c.2369A>C
PTK2 transcript variant 53 NM_001352742.1:c.2369= NM_001352742.1:c.2369A>C
PTK2 transcript variant 55 NM_001352744.2:c.2324= NM_001352744.2:c.2324A>C
PTK2 transcript variant 55 NM_001352744.1:c.2324= NM_001352744.1:c.2324A>C
PTK2 transcript variant 56 NM_001352745.2:c.2306= NM_001352745.2:c.2306A>C
PTK2 transcript variant 56 NM_001352745.1:c.2306= NM_001352745.1:c.2306A>C
PTK2 transcript variant 67 NR_148039.2:n.2663= NR_148039.2:n.2663A>C
PTK2 transcript variant 67 NR_148039.1:n.2694= NR_148039.1:n.2694A>C
PTK2 transcript variant 57 NM_001352746.2:c.2261= NM_001352746.2:c.2261A>C
PTK2 transcript variant 57 NM_001352746.1:c.2261= NM_001352746.1:c.2261A>C
PTK2 transcript variant 60 NM_001352749.2:c.662= NM_001352749.2:c.662A>C
PTK2 transcript variant 60 NM_001352749.1:c.662= NM_001352749.1:c.662A>C
PTK2 transcript variant 61 NM_001352750.2:c.653= NM_001352750.2:c.653A>C
PTK2 transcript variant 61 NM_001352750.1:c.653= NM_001352750.1:c.653A>C
PTK2 transcript variant 62 NM_001352751.2:c.599= NM_001352751.2:c.599A>C
PTK2 transcript variant 62 NM_001352751.1:c.599= NM_001352751.1:c.599A>C
PTK2 transcript variant 63 NM_001352752.2:c.590= NM_001352752.2:c.590A>C
PTK2 transcript variant 63 NM_001352752.1:c.590= NM_001352752.1:c.590A>C
PTK2 transcript variant 124 NM_001387650.1:c.2855= NM_001387650.1:c.2855A>C
PTK2 transcript variant 123 NM_001387649.1:c.2903= NM_001387649.1:c.2903A>C
PTK2 transcript variant 122 NM_001387648.1:c.2855= NM_001387648.1:c.2855A>C
PTK2 transcript variant 121 NM_001387647.1:c.2723= NM_001387647.1:c.2723A>C
PTK2 transcript variant 120 NM_001387646.1:c.2855= NM_001387646.1:c.2855A>C
PTK2 transcript variant 119 NM_001387645.1:c.2723= NM_001387645.1:c.2723A>C
PTK2 transcript variant 136 NM_001387662.1:c.2864= NM_001387662.1:c.2864A>C
PTK2 transcript variant 135 NM_001387661.1:c.2855= NM_001387661.1:c.2855A>C
PTK2 transcript variant 118 NM_001387644.1:c.2873= NM_001387644.1:c.2873A>C
PTK2 transcript variant 117 NM_001387643.1:c.2855= NM_001387643.1:c.2855A>C
PTK2 transcript variant 116 NM_001387642.1:c.2723= NM_001387642.1:c.2723A>C
PTK2 transcript variant 134 NM_001387660.1:c.2855= NM_001387660.1:c.2855A>C
PTK2 transcript variant 115 NM_001387641.1:c.2762= NM_001387641.1:c.2762A>C
PTK2 transcript variant 114 NM_001387640.1:c.2792= NM_001387640.1:c.2792A>C
PTK2 transcript variant 113 NM_001387639.1:c.2771= NM_001387639.1:c.2771A>C
PTK2 transcript variant 133 NM_001387659.1:c.2732= NM_001387659.1:c.2732A>C
PTK2 transcript variant 112 NM_001387638.1:c.2732= NM_001387638.1:c.2732A>C
PTK2 transcript variant 111 NM_001387637.1:c.2723= NM_001387637.1:c.2723A>C
PTK2 transcript variant 132 NM_001387658.1:c.2723= NM_001387658.1:c.2723A>C
PTK2 transcript variant 110 NM_001387636.1:c.2723= NM_001387636.1:c.2723A>C
PTK2 transcript variant 109 NM_001387635.1:c.2276= NM_001387635.1:c.2276A>C
PTK2 transcript variant 108 NM_001387634.1:c.2750= NM_001387634.1:c.2750A>C
PTK2 transcript variant 107 NM_001387633.1:c.2690= NM_001387633.1:c.2690A>C
PTK2 transcript variant 140 NR_170673.1:n.3011= NR_170673.1:n.3011A>C
PTK2 transcript variant 106 NM_001387632.1:c.2660= NM_001387632.1:c.2660A>C
PTK2 transcript variant 105 NM_001387631.1:c.2747= NM_001387631.1:c.2747A>C
PTK2 transcript variant 104 NM_001387630.1:c.2201= NM_001387630.1:c.2201A>C
PTK2 transcript variant 103 NM_001387629.1:c.1808= NM_001387629.1:c.1808A>C
PTK2 transcript variant 102 NM_001387628.1:c.2723= NM_001387628.1:c.2723A>C
PTK2 transcript variant 131 NM_001387657.1:c.2723= NM_001387657.1:c.2723A>C
PTK2 transcript variant 101 NM_001387627.1:c.2678= NM_001387627.1:c.2678A>C
PTK2 transcript variant 99 NM_001387625.1:c.2669= NM_001387625.1:c.2669A>C
PTK2 transcript variant 98 NM_001387624.1:c.2747= NM_001387624.1:c.2747A>C
PTK2 transcript variant 97 NM_001387623.1:c.2384= NM_001387623.1:c.2384A>C
PTK2 transcript variant 96 NM_001387622.1:c.2741= NM_001387622.1:c.2741A>C
PTK2 transcript variant 95 NM_001387621.1:c.1781= NM_001387621.1:c.1781A>C
PTK2 transcript variant 130 NM_001387656.1:c.2669= NM_001387656.1:c.2669A>C
PTK2 transcript variant 71 NM_001387587.1:c.2723= NM_001387587.1:c.2723A>C
PTK2 transcript variant 94 NM_001387620.1:c.2432= NM_001387620.1:c.2432A>C
PTK2 transcript variant 93 NM_001387619.1:c.2615= NM_001387619.1:c.2615A>C
PTK2 transcript variant 92 NM_001387618.1:c.2384= NM_001387618.1:c.2384A>C
PTK2 transcript variant 129 NM_001387655.1:c.2723= NM_001387655.1:c.2723A>C
PTK2 transcript variant 91 NM_001387617.1:c.1781= NM_001387617.1:c.1781A>C
PTK2 transcript variant 90 NM_001387616.1:c.1781= NM_001387616.1:c.1781A>C
PTK2 transcript variant 89 NM_001387615.1:c.2663= NM_001387615.1:c.2663A>C
PTK2 transcript variant 88 NM_001387614.1:c.2660= NM_001387614.1:c.2660A>C
PTK2 transcript variant 87 NM_001387613.1:c.2393= NM_001387613.1:c.2393A>C
PTK2 transcript variant 86 NM_001387612.1:c.2384= NM_001387612.1:c.2384A>C
PTK2 transcript variant 85 NM_001387611.1:c.2402= NM_001387611.1:c.2402A>C
PTK2 transcript variant 70 NM_001387586.1:c.2723= NM_001387586.1:c.2723A>C
PTK2 transcript variant 84 NM_001387610.1:c.2201= NM_001387610.1:c.2201A>C
PTK2 transcript variant 83 NM_001387609.1:c.2393= NM_001387609.1:c.2393A>C
PTK2 transcript variant 82 NM_001387608.1:c.2384= NM_001387608.1:c.2384A>C
PTK2 transcript variant 128 NM_001387654.1:c.2384= NM_001387654.1:c.2384A>C
PTK2 transcript variant 139 NR_170672.1:n.2801= NR_170672.1:n.2801A>C
PTK2 transcript variant 81 NM_001387607.1:c.2423= NM_001387607.1:c.2423A>C
PTK2 transcript variant 80 NM_001387606.1:c.2414= NM_001387606.1:c.2414A>C
PTK2 transcript variant 127 NM_001387653.1:c.2615= NM_001387653.1:c.2615A>C
PTK2 transcript variant 69 NM_001387585.1:c.2660= NM_001387585.1:c.2660A>C
PTK2 transcript variant 79 NM_001387605.1:c.2384= NM_001387605.1:c.2384A>C
PTK2 transcript variant 126 NM_001387652.1:c.2384= NM_001387652.1:c.2384A>C
PTK2 transcript variant 78 NM_001387604.1:c.1790= NM_001387604.1:c.1790A>C
PTK2 transcript variant 77 NM_001387603.1:c.2330= NM_001387603.1:c.2330A>C
PTK2 transcript variant 76 NM_001387592.1:c.1781= NM_001387592.1:c.1781A>C
PTK2 transcript variant 75 NM_001387591.1:c.2321= NM_001387591.1:c.2321A>C
PTK2 transcript variant 68 NM_001387584.1:c.2384= NM_001387584.1:c.2384A>C
PTK2 transcript variant 74 NM_001387590.1:c.2276= NM_001387590.1:c.2276A>C
PTK2 transcript variant 138 NR_170671.1:n.2634= NR_170671.1:n.2634A>C
PTK2 transcript variant X18 XM_024447202.2:c.2897= XM_024447202.2:c.2897A>C
PTK2 transcript variant X5 XM_024447202.1:c.2897= XM_024447202.1:c.2897A>C
PTK2 transcript variant X19 XM_024447203.2:c.2894= XM_024447203.2:c.2894A>C
PTK2 transcript variant X6 XM_024447203.1:c.2894= XM_024447203.1:c.2894A>C
PTK2 transcript variant X29 XM_024447207.2:c.2822= XM_024447207.2:c.2822A>C
PTK2 transcript variant X13 XM_024447207.1:c.2822= XM_024447207.1:c.2822A>C
PTK2 transcript variant X30 XM_024447208.2:c.2816= XM_024447208.2:c.2816A>C
PTK2 transcript variant X14 XM_024447208.1:c.2816= XM_024447208.1:c.2816A>C
PTK2 transcript variant X32 XM_024447209.2:c.2798= XM_024447209.2:c.2798A>C
PTK2 transcript variant X15 XM_024447209.1:c.2798= XM_024447209.1:c.2798A>C
PTK2 transcript variant X37 XM_047422048.1:c.2552= XM_047422048.1:c.2552A>C
PTK2 transcript variant X4 XM_047422019.1:c.2987= XM_047422019.1:c.2987A>C
PTK2 transcript variant X6 XM_047422021.1:c.2987= XM_047422021.1:c.2987A>C
PTK2 transcript variant X13 XM_047422028.1:c.2915= XM_047422028.1:c.2915A>C
PTK2 transcript variant X16 XM_047422031.1:c.2903= XM_047422031.1:c.2903A>C
PTK2 transcript variant X21 XM_047422034.1:c.2885= XM_047422034.1:c.2885A>C
PTK2 transcript variant X23 XM_047422036.1:c.2876= XM_047422036.1:c.2876A>C
PTK2 transcript variant X24 XM_047422037.1:c.2864= XM_047422037.1:c.2864A>C
PTK2 transcript variant X5 XM_047422020.1:c.2987= XM_047422020.1:c.2987A>C
PTK2 transcript variant X36 XM_047422047.1:c.2747= XM_047422047.1:c.2747A>C
PTK2 transcript variant X1 XM_047422016.1:c.3008= XM_047422016.1:c.3008A>C
PTK2 transcript variant X2 XM_047422017.1:c.2999= XM_047422017.1:c.2999A>C
PTK2 transcript variant X3 XM_047422018.1:c.2987= XM_047422018.1:c.2987A>C
PTK2 transcript variant X7 XM_047422022.1:c.2978= XM_047422022.1:c.2978A>C
PTK2 transcript variant X38 XM_047422049.1:c.2855= XM_047422049.1:c.2855A>C
PTK2 transcript variant X8 XM_047422023.1:c.2945= XM_047422023.1:c.2945A>C
PTK2 transcript variant X9 XM_047422024.1:c.2936= XM_047422024.1:c.2936A>C
PTK2 transcript variant X10 XM_047422025.1:c.2924= XM_047422025.1:c.2924A>C
PTK2 transcript variant X26 XM_047422039.1:c.2855= XM_047422039.1:c.2855A>C
PTK2 transcript variant X41 XM_047422053.1:c.2855= XM_047422053.1:c.2855A>C
PTK2 transcript variant X12 XM_047422027.1:c.2915= XM_047422027.1:c.2915A>C
PTK2 transcript variant X11 XM_047422026.1:c.2915= XM_047422026.1:c.2915A>C
PTK2 transcript variant X14 XM_047422029.1:c.2906= XM_047422029.1:c.2906A>C
PTK2 transcript variant X15 XM_047422030.1:c.2903= XM_047422030.1:c.2903A>C
PTK2 transcript variant X17 XM_047422032.1:c.2900= XM_047422032.1:c.2900A>C
PTK2 transcript variant X33 XM_047422044.1:c.2771= XM_047422044.1:c.2771A>C
PTK2 transcript variant X20 XM_047422033.1:c.2885= XM_047422033.1:c.2885A>C
PTK2 transcript variant X22 XM_047422035.1:c.2876= XM_047422035.1:c.2876A>C
PTK2 transcript variant X25 XM_047422038.1:c.2861= XM_047422038.1:c.2861A>C
PTK2 transcript variant X27 XM_047422040.1:c.2843= XM_047422040.1:c.2843A>C
PTK2 transcript variant X28 XM_047422041.1:c.2831= XM_047422041.1:c.2831A>C
PTK2 transcript variant X31 XM_047422043.1:c.2813= XM_047422043.1:c.2813A>C
PTK2 transcript variant X34 XM_047422045.1:c.2768= XM_047422045.1:c.2768A>C
PTK2 transcript variant X39 XM_047422050.1:c.2516= XM_047422050.1:c.2516A>C
PTK2 transcript variant X35 XM_047422046.1:c.2753= XM_047422046.1:c.2753A>C
PTK2 transcript variant X40 XM_047422052.1:c.2507= XM_047422052.1:c.2507A>C
PTK2 transcript variant X42 XM_047422054.1:c.2414= XM_047422054.1:c.2414A>C
focal adhesion kinase 1 isoform 2 NP_005598.3:p.Glu930= NP_005598.3:p.Glu930Ala
focal adhesion kinase 1 isoform 1 NP_722560.1:p.Glu908= NP_722560.1:p.Glu908Ala
focal adhesion kinase 1 isoform 5 NP_001339626.1:p.Glu972= NP_001339626.1:p.Glu972Ala
focal adhesion kinase 1 isoform 6 NP_001339627.1:p.Glu965= NP_001339627.1:p.Glu965Ala
focal adhesion kinase 1 isoform 9 NP_001339634.1:p.Glu937= NP_001339634.1:p.Glu937Ala
focal adhesion kinase 1 isoform 12 NP_001339641.1:p.Glu949= NP_001339641.1:p.Glu949Ala
focal adhesion kinase 1 isoform 7 NP_001339630.1:p.Glu952= NP_001339630.1:p.Glu952Ala
focal adhesion kinase 1 isoform 7 NP_001339632.1:p.Glu952= NP_001339632.1:p.Glu952Ala
focal adhesion kinase 1 isoform 40 NP_001339676.1:p.Glu437= NP_001339676.1:p.Glu437Ala
focal adhesion kinase 1 isoform 7 NP_001339631.1:p.Glu952= NP_001339631.1:p.Glu952Ala
focal adhesion kinase 1 isoform 8 NP_001339633.1:p.Glu945= NP_001339633.1:p.Glu945Ala
focal adhesion kinase 1 isoform 10 NP_001339636.1:p.Glu924= NP_001339636.1:p.Glu924Ala
focal adhesion kinase 1 isoform 10 NP_001339638.1:p.Glu924= NP_001339638.1:p.Glu924Ala
focal adhesion kinase 1 isoform 7 NP_001339629.1:p.Glu952= NP_001339629.1:p.Glu952Ala
focal adhesion kinase 1 isoform 7 NP_001339628.1:p.Glu952= NP_001339628.1:p.Glu952Ala
focal adhesion kinase 1 isoform 48 NP_001339624.1:p.Glu921= NP_001339624.1:p.Glu921Ala
focal adhesion kinase 1 isoform 3 NP_001186578.1:p.Glu921= NP_001186578.1:p.Glu921Ala
focal adhesion kinase 1 isoform 13 NP_001339643.1:p.Glu918= NP_001339643.1:p.Glu918Ala
focal adhesion kinase 1 isoform 15 NP_001339645.1:p.Glu916= NP_001339645.1:p.Glu916Ala
focal adhesion kinase 1 isoform 16 NP_001339646.1:p.Glu914= NP_001339646.1:p.Glu914Ala
focal adhesion kinase 1 isoform 10 NP_001339637.1:p.Glu924= NP_001339637.1:p.Glu924Ala
focal adhesion kinase 1 isoform 10 NP_001339639.1:p.Glu924= NP_001339639.1:p.Glu924Ala
focal adhesion kinase 1 isoform 17 NP_001339647.1:p.Glu911= NP_001339647.1:p.Glu911Ala
focal adhesion kinase 1 isoform 20 NP_001339654.1:p.Glu890= NP_001339654.1:p.Glu890Ala
focal adhesion kinase 1 isoform 18 NP_001339652.1:p.Glu903= NP_001339652.1:p.Glu903Ala
focal adhesion kinase 1 isoform 17 NP_001339648.1:p.Glu911= NP_001339648.1:p.Glu911Ala
focal adhesion kinase 1 isoform 19 NP_001339653.1:p.Glu924= NP_001339653.1:p.Glu924Ala
focal adhesion kinase 1 isoform 26 NP_001339660.1:p.Glu837= NP_001339660.1:p.Glu837Ala
focal adhesion kinase 1 isoform 10 NP_001339635.1:p.Glu924= NP_001339635.1:p.Glu924Ala
focal adhesion kinase 1 isoform 11 NP_001339640.1:p.Glu923= NP_001339640.1:p.Glu923Ala
focal adhesion kinase 1 isoform 18 NP_001339651.1:p.Glu903= NP_001339651.1:p.Glu903Ala
focal adhesion kinase 1 isoform 13 NP_001339642.1:p.Glu918= NP_001339642.1:p.Glu918Ala
focal adhesion kinase 1 isoform 21 NP_001339655.1:p.Glu888= NP_001339655.1:p.Glu888Ala
focal adhesion kinase 1 isoform 14 NP_001339644.1:p.Glu917= NP_001339644.1:p.Glu917Ala
focal adhesion kinase 1 isoform 31 NP_001339666.1:p.Glu829= NP_001339666.1:p.Glu829Ala
focal adhesion kinase 1 isoform 17 NP_001339649.1:p.Glu911= NP_001339649.1:p.Glu911Ala
focal adhesion kinase 1 isoform 1 NP_001339623.1:p.Glu908= NP_001339623.1:p.Glu908Ala
focal adhesion kinase 1 isoform 18 NP_001339650.1:p.Glu903= NP_001339650.1:p.Glu903Ala
focal adhesion kinase 1 isoform 33 NP_001339668.1:p.Glu805= NP_001339668.1:p.Glu805Ala
focal adhesion kinase 1 isoform 4 NP_001339625.1:p.Glu811= NP_001339625.1:p.Glu811Ala
focal adhesion kinase 1 isoform 25 NP_001339659.1:p.Glu839= NP_001339659.1:p.Glu839Ala
focal adhesion kinase 1 isoform 46 NP_001339664.1:p.Glu818= NP_001339664.1:p.Glu818Ala
focal adhesion kinase 1 isoform 27 NP_001339661.1:p.Glu836= NP_001339661.1:p.Glu836Ala
focal adhesion kinase 1 isoform 30 NP_001339665.1:p.Glu816= NP_001339665.1:p.Glu816Ala
focal adhesion kinase 1 isoform 34 NP_001339669.1:p.Glu804= NP_001339669.1:p.Glu804Ala
focal adhesion kinase 1 isoform 28 NP_001339662.1:p.Glu832= NP_001339662.1:p.Glu832Ala
focal adhesion kinase 1 isoform 47 NP_001339672.1:p.Glu790= NP_001339672.1:p.Glu790Ala
focal adhesion kinase 1 isoform 22 NP_001339656.1:p.Glu903= NP_001339656.1:p.Glu903Ala
focal adhesion kinase 1 isoform 29 NP_001339663.1:p.Glu818= NP_001339663.1:p.Glu818Ala
focal adhesion kinase 1 isoform 23 NP_001339657.1:p.Glu872= NP_001339657.1:p.Glu872Ala
focal adhesion kinase 1 isoform 4 NP_001303271.1:p.Glu811= NP_001303271.1:p.Glu811Ala
focal adhesion kinase 1 isoform 24 NP_001339658.1:p.Glu867= NP_001339658.1:p.Glu867Ala
focal adhesion kinase 1 isoform 32 NP_001339667.1:p.Glu809= NP_001339667.1:p.Glu809Ala
focal adhesion kinase 1 isoform 35 NP_001339670.1:p.Glu798= NP_001339670.1:p.Glu798Ala
focal adhesion kinase 1 isoform 36 NP_001339671.1:p.Glu790= NP_001339671.1:p.Glu790Ala
focal adhesion kinase 1 isoform 37 NP_001339673.1:p.Glu775= NP_001339673.1:p.Glu775Ala
focal adhesion kinase 1 isoform 38 NP_001339674.1:p.Glu769= NP_001339674.1:p.Glu769Ala
focal adhesion kinase 1 isoform 39 NP_001339675.1:p.Glu754= NP_001339675.1:p.Glu754Ala
focal adhesion kinase 1 isoform 42 NP_001339678.1:p.Glu221= NP_001339678.1:p.Glu221Ala
focal adhesion kinase 1 isoform 43 NP_001339679.1:p.Glu218= NP_001339679.1:p.Glu218Ala
focal adhesion kinase 1 isoform 44 NP_001339680.1:p.Glu200= NP_001339680.1:p.Glu200Ala
focal adhesion kinase 1 isoform 45 NP_001339681.1:p.Glu197= NP_001339681.1:p.Glu197Ala
focal adhesion kinase 1 isoform 65 NP_001374579.1:p.Glu952= NP_001374579.1:p.Glu952Ala
focal adhesion kinase 1 isoform 63 NP_001374578.1:p.Glu968= NP_001374578.1:p.Glu968Ala
focal adhesion kinase 1 isoform 65 NP_001374577.1:p.Glu952= NP_001374577.1:p.Glu952Ala
focal adhesion kinase 1 isoform 1 NP_001374576.1:p.Glu908= NP_001374576.1:p.Glu908Ala
focal adhesion kinase 1 isoform 65 NP_001374575.1:p.Glu952= NP_001374575.1:p.Glu952Ala
focal adhesion kinase 1 isoform 1 NP_001374574.1:p.Glu908= NP_001374574.1:p.Glu908Ala
focal adhesion kinase 1 isoform 61 NP_001374591.1:p.Glu955= NP_001374591.1:p.Glu955Ala
focal adhesion kinase 1 isoform 65 NP_001374590.1:p.Glu952= NP_001374590.1:p.Glu952Ala
focal adhesion kinase 1 isoform 62 NP_001374573.1:p.Glu958= NP_001374573.1:p.Glu958Ala
focal adhesion kinase 1 isoform 65 NP_001374572.1:p.Glu952= NP_001374572.1:p.Glu952Ala
focal adhesion kinase 1 isoform 1 NP_001374571.1:p.Glu908= NP_001374571.1:p.Glu908Ala
focal adhesion kinase 1 isoform 65 NP_001374589.1:p.Glu952= NP_001374589.1:p.Glu952Ala
focal adhesion kinase 1 isoform 72 NP_001374570.1:p.Glu921= NP_001374570.1:p.Glu921Ala
focal adhesion kinase 1 isoform 64 NP_001374569.1:p.Glu931= NP_001374569.1:p.Glu931Ala
focal adhesion kinase 1 isoform 10 NP_001374568.1:p.Glu924= NP_001374568.1:p.Glu924Ala
focal adhesion kinase 1 isoform 17 NP_001374588.1:p.Glu911= NP_001374588.1:p.Glu911Ala
focal adhesion kinase 1 isoform 17 NP_001374567.1:p.Glu911= NP_001374567.1:p.Glu911Ala
focal adhesion kinase 1 isoform 1 NP_001374566.1:p.Glu908= NP_001374566.1:p.Glu908Ala
focal adhesion kinase 1 isoform 1 NP_001374587.1:p.Glu908= NP_001374587.1:p.Glu908Ala
focal adhesion kinase 1 isoform 1 NP_001374565.1:p.Glu908= NP_001374565.1:p.Glu908Ala
focal adhesion kinase 1 isoform 53 NP_001374564.1:p.Glu759= NP_001374564.1:p.Glu759Ala
focal adhesion kinase 1 isoform 14 NP_001374563.1:p.Glu917= NP_001374563.1:p.Glu917Ala
focal adhesion kinase 1 isoform 68 NP_001374562.1:p.Glu897= NP_001374562.1:p.Glu897Ala
focal adhesion kinase 1 isoform 59 NP_001374561.1:p.Glu887= NP_001374561.1:p.Glu887Ala
focal adhesion kinase 1 isoform 15 NP_001374560.1:p.Glu916= NP_001374560.1:p.Glu916Ala
focal adhesion kinase 1 isoform 52 NP_001374559.1:p.Glu734= NP_001374559.1:p.Glu734Ala
focal adhesion kinase 1 isoform 50 NP_001374558.1:p.Glu603= NP_001374558.1:p.Glu603Ala
focal adhesion kinase 1 isoform 1 NP_001374557.1:p.Glu908= NP_001374557.1:p.Glu908Ala
focal adhesion kinase 1 isoform 1 NP_001374586.1:p.Glu908= NP_001374586.1:p.Glu908Ala
focal adhesion kinase 1 isoform 60 NP_001374556.1:p.Glu893= NP_001374556.1:p.Glu893Ala
focal adhesion kinase 1 isoform 20 NP_001374554.1:p.Glu890= NP_001374554.1:p.Glu890Ala
focal adhesion kinase 1 isoform 15 NP_001374553.1:p.Glu916= NP_001374553.1:p.Glu916Ala
focal adhesion kinase 1 isoform 56 NP_001374552.1:p.Glu795= NP_001374552.1:p.Glu795Ala
focal adhesion kinase 1 isoform 16 NP_001374551.1:p.Glu914= NP_001374551.1:p.Glu914Ala
focal adhesion kinase 1 isoform 71 NP_001374550.1:p.Glu594= NP_001374550.1:p.Glu594Ala
focal adhesion kinase 1 isoform 20 NP_001374585.1:p.Glu890= NP_001374585.1:p.Glu890Ala
focal adhesion kinase 1 isoform 1 NP_001374516.1:p.Glu908= NP_001374516.1:p.Glu908Ala
focal adhesion kinase 1 isoform 4 NP_001374549.1:p.Glu811= NP_001374549.1:p.Glu811Ala
focal adhesion kinase 1 isoform 23 NP_001374548.1:p.Glu872= NP_001374548.1:p.Glu872Ala
focal adhesion kinase 1 isoform 56 NP_001374547.1:p.Glu795= NP_001374547.1:p.Glu795Ala
focal adhesion kinase 1 isoform 1 NP_001374584.1:p.Glu908= NP_001374584.1:p.Glu908Ala
focal adhesion kinase 1 isoform 71 NP_001374546.1:p.Glu594= NP_001374546.1:p.Glu594Ala
focal adhesion kinase 1 isoform 71 NP_001374545.1:p.Glu594= NP_001374545.1:p.Glu594Ala
focal adhesion kinase 1 isoform 21 NP_001374544.1:p.Glu888= NP_001374544.1:p.Glu888Ala
focal adhesion kinase 1 isoform 59 NP_001374543.1:p.Glu887= NP_001374543.1:p.Glu887Ala
focal adhesion kinase 1 isoform 35 NP_001374542.1:p.Glu798= NP_001374542.1:p.Glu798Ala
focal adhesion kinase 1 isoform 56 NP_001374541.1:p.Glu795= NP_001374541.1:p.Glu795Ala
focal adhesion kinase 1 isoform 57 NP_001374540.1:p.Glu801= NP_001374540.1:p.Glu801Ala
focal adhesion kinase 1 isoform 1 NP_001374515.1:p.Glu908= NP_001374515.1:p.Glu908Ala
focal adhesion kinase 1 isoform 52 NP_001374539.1:p.Glu734= NP_001374539.1:p.Glu734Ala
focal adhesion kinase 1 isoform 35 NP_001374538.1:p.Glu798= NP_001374538.1:p.Glu798Ala
focal adhesion kinase 1 isoform 56 NP_001374537.1:p.Glu795= NP_001374537.1:p.Glu795Ala
focal adhesion kinase 1 isoform 56 NP_001374583.1:p.Glu795= NP_001374583.1:p.Glu795Ala
focal adhesion kinase 1 isoform 58 NP_001374536.1:p.Glu808= NP_001374536.1:p.Glu808Ala
focal adhesion kinase 1 isoform 33 NP_001374535.1:p.Glu805= NP_001374535.1:p.Glu805Ala
focal adhesion kinase 1 isoform 23 NP_001374582.1:p.Glu872= NP_001374582.1:p.Glu872Ala
focal adhesion kinase 1 isoform 59 NP_001374514.1:p.Glu887= NP_001374514.1:p.Glu887Ala
focal adhesion kinase 1 isoform 56 NP_001374534.1:p.Glu795= NP_001374534.1:p.Glu795Ala
focal adhesion kinase 1 isoform 56 NP_001374581.1:p.Glu795= NP_001374581.1:p.Glu795Ala
focal adhesion kinase 1 isoform 49 NP_001374533.1:p.Glu597= NP_001374533.1:p.Glu597Ala
focal adhesion kinase 1 isoform 55 NP_001374532.1:p.Glu777= NP_001374532.1:p.Glu777Ala
focal adhesion kinase 1 isoform 71 NP_001374521.1:p.Glu594= NP_001374521.1:p.Glu594Ala
focal adhesion kinase 1 isoform 54 NP_001374520.1:p.Glu774= NP_001374520.1:p.Glu774Ala
focal adhesion kinase 1 isoform 56 NP_001374513.1:p.Glu795= NP_001374513.1:p.Glu795Ala
focal adhesion kinase 1 isoform 53 NP_001374519.1:p.Glu759= NP_001374519.1:p.Glu759Ala
focal adhesion kinase 1 isoform X16 XP_024302970.1:p.Glu966= XP_024302970.1:p.Glu966Ala
focal adhesion kinase 1 isoform X17 XP_024302971.1:p.Glu965= XP_024302971.1:p.Glu965Ala
focal adhesion kinase 1 isoform X27 XP_024302975.1:p.Glu941= XP_024302975.1:p.Glu941Ala
focal adhesion kinase 1 isoform X28 XP_024302976.1:p.Glu939= XP_024302976.1:p.Glu939Ala
focal adhesion kinase 1 isoform X30 XP_024302977.1:p.Glu933= XP_024302977.1:p.Glu933Ala
focal adhesion kinase 1 isoform X35 XP_047278004.1:p.Glu851= XP_047278004.1:p.Glu851Ala
focal adhesion kinase 1 isoform X4 XP_047277975.1:p.Glu996= XP_047277975.1:p.Glu996Ala
focal adhesion kinase 1 isoform X4 XP_047277977.1:p.Glu996= XP_047277977.1:p.Glu996Ala
focal adhesion kinase 1 isoform X11 XP_047277984.1:p.Glu972= XP_047277984.1:p.Glu972Ala
focal adhesion kinase 1 isoform X14 XP_047277987.1:p.Glu968= XP_047277987.1:p.Glu968Ala
focal adhesion kinase 1 isoform X19 XP_047277990.1:p.Glu962= XP_047277990.1:p.Glu962Ala
focal adhesion kinase 1 isoform X21 XP_047277992.1:p.Glu959= XP_047277992.1:p.Glu959Ala
focal adhesion kinase 1 isoform X22 XP_047277993.1:p.Glu955= XP_047277993.1:p.Glu955Ala
focal adhesion kinase 1 isoform X4 XP_047277976.1:p.Glu996= XP_047277976.1:p.Glu996Ala
focal adhesion kinase 1 isoform X34 XP_047278003.1:p.Glu916= XP_047278003.1:p.Glu916Ala
focal adhesion kinase 1 isoform X1 XP_047277972.1:p.Glu1003= XP_047277972.1:p.Glu1003Ala
focal adhesion kinase 1 isoform X2 XP_047277973.1:p.Glu1000= XP_047277973.1:p.Glu1000Ala
focal adhesion kinase 1 isoform X3 XP_047277974.1:p.Glu996= XP_047277974.1:p.Glu996Ala
focal adhesion kinase 1 isoform X5 XP_047277978.1:p.Glu993= XP_047277978.1:p.Glu993Ala
focal adhesion kinase 1 isoform X24 XP_047278005.1:p.Glu952= XP_047278005.1:p.Glu952Ala
focal adhesion kinase 1 isoform X6 XP_047277979.1:p.Glu982= XP_047277979.1:p.Glu982Ala
focal adhesion kinase 1 isoform X7 XP_047277980.1:p.Glu979= XP_047277980.1:p.Glu979Ala
focal adhesion kinase 1 isoform X8 XP_047277981.1:p.Glu975= XP_047277981.1:p.Glu975Ala
focal adhesion kinase 1 isoform X24 XP_047277995.1:p.Glu952= XP_047277995.1:p.Glu952Ala
focal adhesion kinase 1 isoform X24 XP_047278009.1:p.Glu952= XP_047278009.1:p.Glu952Ala
focal adhesion kinase 1 isoform X10 XP_047277983.1:p.Glu972= XP_047277983.1:p.Glu972Ala
focal adhesion kinase 1 isoform X9 XP_047277982.1:p.Glu972= XP_047277982.1:p.Glu972Ala
focal adhesion kinase 1 isoform X12 XP_047277985.1:p.Glu969= XP_047277985.1:p.Glu969Ala
focal adhesion kinase 1 isoform X13 XP_047277986.1:p.Glu968= XP_047277986.1:p.Glu968Ala
focal adhesion kinase 1 isoform X15 XP_047277988.1:p.Glu967= XP_047277988.1:p.Glu967Ala
focal adhesion kinase 1 isoform X31 XP_047278000.1:p.Glu924= XP_047278000.1:p.Glu924Ala
focal adhesion kinase 1 isoform X18 XP_047277989.1:p.Glu962= XP_047277989.1:p.Glu962Ala
focal adhesion kinase 1 isoform X20 XP_047277991.1:p.Glu959= XP_047277991.1:p.Glu959Ala
focal adhesion kinase 1 isoform X23 XP_047277994.1:p.Glu954= XP_047277994.1:p.Glu954Ala
focal adhesion kinase 1 isoform X25 XP_047277996.1:p.Glu948= XP_047277996.1:p.Glu948Ala
focal adhesion kinase 1 isoform X26 XP_047277997.1:p.Glu944= XP_047277997.1:p.Glu944Ala
focal adhesion kinase 1 isoform X29 XP_047277999.1:p.Glu938= XP_047277999.1:p.Glu938Ala
focal adhesion kinase 1 isoform X32 XP_047278001.1:p.Glu923= XP_047278001.1:p.Glu923Ala
focal adhesion kinase 1 isoform X36 XP_047278006.1:p.Glu839= XP_047278006.1:p.Glu839Ala
focal adhesion kinase 1 isoform X33 XP_047278002.1:p.Glu918= XP_047278002.1:p.Glu918Ala
focal adhesion kinase 1 isoform X37 XP_047278008.1:p.Glu836= XP_047278008.1:p.Glu836Ala
focal adhesion kinase 1 isoform X38 XP_047278010.1:p.Glu805= XP_047278010.1:p.Glu805Ala
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

2 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2737372470 Nov 08, 2017 (151)
2 TOPMED ss4807622798 Apr 27, 2021 (155)
3 gnomAD - Exomes NC_000008.10 - 141678510 Jul 13, 2019 (153)
4 TopMed NC_000008.11 - 140668411 Apr 27, 2021 (155)
5 ALFA NC_000008.11 - 140668411 Apr 27, 2021 (155)
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History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
6548697, ss2737372470 NC_000008.10:141678509:T:G NC_000008.11:140668410:T:G (self)
645000358, 2958828997, ss4807622798 NC_000008.11:140668410:T:G NC_000008.11:140668410:T:G (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1488513998

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The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d