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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs1468251197

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:35781724 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000007 (1/140222, GnomAD)
A=0.00000 (0/10680, ALFA)
C=0.00000 (0/10680, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RBFOX2 : 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 10680 G=1.00000 A=0.00000, C=0.00000 1.0 0.0 0.0 N/A
European Sub 6962 G=1.0000 A=0.0000, C=0.0000 1.0 0.0 0.0 N/A
African Sub 2294 G=1.0000 A=0.0000, C=0.0000 1.0 0.0 0.0 N/A
African Others Sub 84 G=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
African American Sub 2210 G=1.0000 A=0.0000, C=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 G=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 G=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 G=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 G=1.00 A=0.00, C=0.00 1.0 0.0 0.0 N/A
Other Sub 466 G=1.000 A=0.000, C=0.000 1.0 0.0 0.0 N/A


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
gnomAD - Genomes Global Study-wide 140222 G=0.999993 A=0.000007
gnomAD - Genomes European Sub 75918 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42036 G=0.99998 A=0.00002
gnomAD - Genomes American Sub 13662 G=1.00000 A=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3130 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=1.0000 A=0.0000
Allele Frequency Aggregator Total Global 10680 G=1.00000 A=0.00000, C=0.00000
Allele Frequency Aggregator European Sub 6962 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator African Sub 2294 G=1.0000 A=0.0000, C=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Other Sub 466 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator Asian Sub 108 G=1.000 A=0.000, C=0.000
Allele Frequency Aggregator South Asian Sub 94 G=1.00 A=0.00, C=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 22 NC_000022.11:g.35781724G>A
GRCh38.p14 chr 22 NC_000022.11:g.35781724G>C
GRCh37.p13 chr 22 NC_000022.10:g.36177771G>A
GRCh37.p13 chr 22 NC_000022.10:g.36177771G>C
RBFOX2 RefSeqGene NG_029628.1:g.251815C>T
RBFOX2 RefSeqGene NG_029628.1:g.251815C>G
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG4 NT_187630.1:g.102722G>A
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG4 NT_187630.1:g.102722G>C
Gene: RBFOX2, RNA binding fox-1 homolog 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RBFOX2 transcript variant 13 NM_001349994.2:c.338C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 13 NP_001336923.1:p.Thr113Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 13 NM_001349994.2:c.338C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 13 NP_001336923.1:p.Thr113Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 10 NM_001349990.2:c.338C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 10 NP_001336919.1:p.Thr113Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 10 NM_001349990.2:c.338C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 10 NP_001336919.1:p.Thr113Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 4 NM_001082577.3:c.272C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 4 NP_001076046.1:p.Thr91Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 4 NM_001082577.3:c.272C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 4 NP_001076046.1:p.Thr91Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 2 NM_014309.4:c.275C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 2 NP_055124.1:p.Thr92Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 2 NM_014309.4:c.275C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 2 NP_055124.1:p.Thr92Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 7 NM_001349983.2:c.272C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 7 NP_001336912.1:p.Thr91Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 7 NM_001349983.2:c.272C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 7 NP_001336912.1:p.Thr91Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 17 NM_001349998.2:c.272C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 17 NP_001336927.1:p.Thr91Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 17 NM_001349998.2:c.272C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 17 NP_001336927.1:p.Thr91Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 3 NM_001082576.3:c.272C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 3 NP_001076045.1:p.Thr91Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 3 NM_001082576.3:c.272C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 3 NP_001076045.1:p.Thr91Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 9 NM_001349989.2:c.338C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 9 NP_001336918.1:p.Thr113Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 9 NM_001349989.2:c.338C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 9 NP_001336918.1:p.Thr113Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 1 NM_001031695.4:c.272C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 1 NP_001026865.1:p.Thr91Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 1 NM_001031695.4:c.272C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 1 NP_001026865.1:p.Thr91Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 16 NM_001349997.2:c.275C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 16 NP_001336926.1:p.Thr92Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 16 NM_001349997.2:c.275C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 16 NP_001336926.1:p.Thr92Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 15 NM_001349996.2:c.341C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 15 NP_001336925.1:p.Thr114Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 15 NM_001349996.2:c.341C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 15 NP_001336925.1:p.Thr114Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 8 NM_001349982.2:c.338C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 8 NP_001336911.1:p.Thr113Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 8 NM_001349982.2:c.338C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 8 NP_001336911.1:p.Thr113Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 12 NM_001349992.2:c.338C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 12 NP_001336921.1:p.Thr113Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 12 NM_001349992.2:c.338C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 12 NP_001336921.1:p.Thr113Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 11 NM_001349991.2:c.338C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 11 NP_001336920.1:p.Thr113Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 11 NM_001349991.2:c.338C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 11 NP_001336920.1:p.Thr113Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 14 NM_001349995.2:c.338C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 14 NP_001336924.1:p.Thr113Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 14 NM_001349995.2:c.338C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 14 NP_001336924.1:p.Thr113Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 18 NM_001349999.2:c.485C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 18 NP_001336928.2:p.Thr162Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 18 NM_001349999.2:c.485C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 18 NP_001336928.2:p.Thr162Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 5 NM_001082578.4:c.485C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 5 NP_001076047.2:p.Thr162Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 5 NM_001082578.4:c.485C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 5 NP_001076047.2:p.Thr162Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 6 NM_001082579.3:c.482C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 6 NP_001076048.2:p.Thr161Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 6 NM_001082579.3:c.482C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 6 NP_001076048.2:p.Thr161Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 26 NM_001394115.1:c.482C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 26 NP_001381044.1:p.Thr161Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 26 NM_001394115.1:c.482C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 26 NP_001381044.1:p.Thr161Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 24 NM_001394113.1:c.482C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 24 NP_001381042.1:p.Thr161Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 24 NM_001394113.1:c.482C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 24 NP_001381042.1:p.Thr161Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 22 NM_001394111.1:c.482C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 22 NP_001381040.1:p.Thr161Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 22 NM_001394111.1:c.482C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 22 NP_001381040.1:p.Thr161Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 23 NM_001394112.1:c.485C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 23 NP_001381041.1:p.Thr162Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 23 NM_001394112.1:c.485C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 23 NP_001381041.1:p.Thr162Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 21 NM_001394110.1:c.482C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 21 NP_001381039.1:p.Thr161Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 21 NM_001394110.1:c.482C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 21 NP_001381039.1:p.Thr161Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 19 NM_001394108.1:c.482C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 19 NP_001381037.1:p.Thr161Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 19 NM_001394108.1:c.482C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 19 NP_001381037.1:p.Thr161Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 20 NM_001394109.1:c.485C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 20 NP_001381038.1:p.Thr162Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 20 NM_001394109.1:c.485C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 20 NP_001381038.1:p.Thr162Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant 25 NM_001394114.1:c.485C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 25 NP_001381043.1:p.Thr162Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant 25 NM_001394114.1:c.485C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform 25 NP_001381043.1:p.Thr162Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X7 XM_017028686.1:c.311C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X7 XP_016884175.1:p.Thr104Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X7 XM_017028686.1:c.311C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X7 XP_016884175.1:p.Thr104Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X1 XM_006724185.3:c.485C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X1 XP_006724248.1:p.Thr162Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X1 XM_006724185.3:c.485C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X1 XP_006724248.1:p.Thr162Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X2 XM_006724186.3:c.482C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X2 XP_006724249.1:p.Thr161Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X2 XM_006724186.3:c.482C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X2 XP_006724249.1:p.Thr161Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X3 XM_005261428.3:c.485C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X3 XP_005261485.1:p.Thr162Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X3 XM_005261428.3:c.485C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X3 XP_005261485.1:p.Thr162Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X4 XM_005261429.3:c.482C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X4 XP_005261486.1:p.Thr161Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X4 XM_005261429.3:c.482C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X4 XP_005261486.1:p.Thr161Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X5 XM_006724187.3:c.485C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X5 XP_006724250.1:p.Thr162Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X5 XM_006724187.3:c.485C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X5 XP_006724250.1:p.Thr162Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X6 XM_005261430.3:c.485C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X6 XP_005261487.1:p.Thr162Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X6 XM_005261430.3:c.485C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X6 XP_005261487.1:p.Thr162Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X8 XM_006724188.3:c.485C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X8 XP_006724251.1:p.Thr162Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X8 XM_006724188.3:c.485C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X8 XP_006724251.1:p.Thr162Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X9 XM_017028687.3:c.407C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X9 XP_016884176.1:p.Thr136Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X9 XM_017028687.3:c.407C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X9 XP_016884176.1:p.Thr136Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X10 XM_024452188.2:c.404C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X10 XP_024307956.1:p.Thr135Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X10 XM_024452188.2:c.404C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X10 XP_024307956.1:p.Thr135Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X11 XM_006724189.4:c.341C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X11 XP_006724252.1:p.Thr114Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X11 XM_006724189.4:c.341C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X11 XP_006724252.1:p.Thr114Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X12 XM_047441250.1:c.341C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X12 XP_047297206.1:p.Thr114Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X12 XM_047441250.1:c.341C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X12 XP_047297206.1:p.Thr114Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X13 XM_017028690.2:c.293C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X13 XP_016884179.1:p.Thr98Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X13 XM_017028690.2:c.293C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X13 XP_016884179.1:p.Thr98Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X14 XM_017028691.2:c.290C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X14 XP_016884180.1:p.Thr97Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X14 XM_017028691.2:c.290C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X14 XP_016884180.1:p.Thr97Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X15 XM_006724191.2:c.275C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X15 XP_006724254.1:p.Thr92Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X15 XM_006724191.2:c.275C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X15 XP_006724254.1:p.Thr92Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X16 XM_047441251.1:c.341C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X16 XP_047297207.1:p.Thr114Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X16 XM_047441251.1:c.341C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X16 XP_047297207.1:p.Thr114Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X17 XM_017028693.2:c.275C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X17 XP_016884182.1:p.Thr92Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X17 XM_017028693.2:c.275C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X17 XP_016884182.1:p.Thr92Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X18 XM_006724192.3:c.263C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X18 XP_006724255.1:p.Thr88Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X18 XM_006724192.3:c.263C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X18 XP_006724255.1:p.Thr88Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X19 XM_006724193.4:c.485C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X19 XP_006724256.1:p.Thr162Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X19 XM_006724193.4:c.485C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X19 XP_006724256.1:p.Thr162Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X20 XM_047441252.1:c.260C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X20 XP_047297208.1:p.Thr87Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X20 XM_047441252.1:c.260C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X20 XP_047297208.1:p.Thr87Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X21 XM_047441253.1:c.260C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X21 XP_047297209.1:p.Thr87Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X21 XM_047441253.1:c.260C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X21 XP_047297209.1:p.Thr87Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X22 XM_047441254.1:c.341C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X22 XP_047297210.1:p.Thr114Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X22 XM_047441254.1:c.341C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X22 XP_047297210.1:p.Thr114Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X23 XM_047441255.1:c.275C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X23 XP_047297211.1:p.Thr92Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X23 XM_047441255.1:c.275C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X23 XP_047297211.1:p.Thr92Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X24 XM_017028696.2:c.275C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X24 XP_016884185.1:p.Thr92Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X24 XM_017028696.2:c.275C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X24 XP_016884185.1:p.Thr92Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X25 XM_047441256.1:c.272C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X25 XP_047297212.1:p.Thr91Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X25 XM_047441256.1:c.272C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X25 XP_047297212.1:p.Thr91Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X26 XM_047441257.1:c.290C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X26 XP_047297213.1:p.Thr97Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X26 XM_047441257.1:c.290C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X26 XP_047297213.1:p.Thr97Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X27 XM_024452191.2:c.260C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X27 XP_024307959.1:p.Thr87Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X27 XM_024452191.2:c.260C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X27 XP_024307959.1:p.Thr87Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X28 XM_047441258.1:c.260C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X28 XP_047297214.1:p.Thr87Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X28 XM_047441258.1:c.260C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X28 XP_047297214.1:p.Thr87Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X29 XM_017028698.2:c.272C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X29 XP_016884187.1:p.Thr91Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X29 XM_017028698.2:c.272C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X29 XP_016884187.1:p.Thr91Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X30 XM_047441259.1:c.263C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X30 XP_047297215.1:p.Thr88Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X30 XM_047441259.1:c.263C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X30 XP_047297215.1:p.Thr88Arg T (Thr) > R (Arg) Missense Variant
RBFOX2 transcript variant X31 XM_047441260.1:c.260C>T T [ACA] > I [ATA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X31 XP_047297216.1:p.Thr87Ile T (Thr) > I (Ile) Missense Variant
RBFOX2 transcript variant X31 XM_047441260.1:c.260C>G T [ACA] > R [AGA] Coding Sequence Variant
RNA binding protein fox-1 homolog 2 isoform X31 XP_047297216.1:p.Thr87Arg T (Thr) > R (Arg) 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 G= A C
GRCh38.p14 chr 22 NC_000022.11:g.35781724= NC_000022.11:g.35781724G>A NC_000022.11:g.35781724G>C
GRCh37.p13 chr 22 NC_000022.10:g.36177771= NC_000022.10:g.36177771G>A NC_000022.10:g.36177771G>C
RBFOX2 RefSeqGene NG_029628.1:g.251815= NG_029628.1:g.251815C>T NG_029628.1:g.251815C>G
RBFOX2 transcript variant 5 NM_001082578.4:c.485= NM_001082578.4:c.485C>T NM_001082578.4:c.485C>G
RBFOX2 transcript variant 5 NM_001082578.3:c.485= NM_001082578.3:c.485C>T NM_001082578.3:c.485C>G
RBFOX2 transcript variant 5 NM_001082578.2:c.485= NM_001082578.2:c.485C>T NM_001082578.2:c.485C>G
RBFOX2 transcript variant 5 NM_001082578.1:c.485= NM_001082578.1:c.485C>T NM_001082578.1:c.485C>G
RBFOX2 transcript variant 1 NM_001031695.4:c.272= NM_001031695.4:c.272C>T NM_001031695.4:c.272C>G
RBFOX2 transcript variant 1 NM_001031695.3:c.272= NM_001031695.3:c.272C>T NM_001031695.3:c.272C>G
RBFOX2 transcript variant 1 NM_001031695.2:c.272= NM_001031695.2:c.272C>T NM_001031695.2:c.272C>G
RBFOX2 transcript variant 2 NM_014309.4:c.275= NM_014309.4:c.275C>T NM_014309.4:c.275C>G
RBFOX2 transcript variant 2 NM_014309.3:c.275= NM_014309.3:c.275C>T NM_014309.3:c.275C>G
RBFOX2 transcript variant 2 NM_014309.2:c.275= NM_014309.2:c.275C>T NM_014309.2:c.275C>G
RBFOX2 transcript variant 6 NM_001082579.3:c.482= NM_001082579.3:c.482C>T NM_001082579.3:c.482C>G
RBFOX2 transcript variant 6 NM_001082579.2:c.482= NM_001082579.2:c.482C>T NM_001082579.2:c.482C>G
RBFOX2 transcript variant 6 NM_001082579.1:c.482= NM_001082579.1:c.482C>T NM_001082579.1:c.482C>G
RBFOX2 transcript variant 3 NM_001082576.3:c.272= NM_001082576.3:c.272C>T NM_001082576.3:c.272C>G
RBFOX2 transcript variant 3 NM_001082576.2:c.272= NM_001082576.2:c.272C>T NM_001082576.2:c.272C>G
RBFOX2 transcript variant 3 NM_001082576.1:c.272= NM_001082576.1:c.272C>T NM_001082576.1:c.272C>G
RBFOX2 transcript variant 4 NM_001082577.3:c.272= NM_001082577.3:c.272C>T NM_001082577.3:c.272C>G
RBFOX2 transcript variant 4 NM_001082577.2:c.272= NM_001082577.2:c.272C>T NM_001082577.2:c.272C>G
RBFOX2 transcript variant 4 NM_001082577.1:c.272= NM_001082577.1:c.272C>T NM_001082577.1:c.272C>G
RBFOX2 transcript variant 18 NM_001349999.2:c.485= NM_001349999.2:c.485C>T NM_001349999.2:c.485C>G
RBFOX2 transcript variant 18 NM_001349999.1:c.485= NM_001349999.1:c.485C>T NM_001349999.1:c.485C>G
RBFOX2 transcript variant 17 NM_001349998.2:c.272= NM_001349998.2:c.272C>T NM_001349998.2:c.272C>G
RBFOX2 transcript variant 17 NM_001349998.1:c.272= NM_001349998.1:c.272C>T NM_001349998.1:c.272C>G
RBFOX2 transcript variant 7 NM_001349983.2:c.272= NM_001349983.2:c.272C>T NM_001349983.2:c.272C>G
RBFOX2 transcript variant 7 NM_001349983.1:c.272= NM_001349983.1:c.272C>T NM_001349983.1:c.272C>G
RBFOX2 transcript variant 16 NM_001349997.2:c.275= NM_001349997.2:c.275C>T NM_001349997.2:c.275C>G
RBFOX2 transcript variant 16 NM_001349997.1:c.275= NM_001349997.1:c.275C>T NM_001349997.1:c.275C>G
RBFOX2 transcript variant 11 NM_001349991.2:c.338= NM_001349991.2:c.338C>T NM_001349991.2:c.338C>G
RBFOX2 transcript variant 11 NM_001349991.1:c.338= NM_001349991.1:c.338C>T NM_001349991.1:c.338C>G
RBFOX2 transcript variant 8 NM_001349982.2:c.338= NM_001349982.2:c.338C>T NM_001349982.2:c.338C>G
RBFOX2 transcript variant 8 NM_001349982.1:c.338= NM_001349982.1:c.338C>T NM_001349982.1:c.338C>G
RBFOX2 transcript variant 9 NM_001349989.2:c.338= NM_001349989.2:c.338C>T NM_001349989.2:c.338C>G
RBFOX2 transcript variant 9 NM_001349989.1:c.338= NM_001349989.1:c.338C>T NM_001349989.1:c.338C>G
RBFOX2 transcript variant 15 NM_001349996.2:c.341= NM_001349996.2:c.341C>T NM_001349996.2:c.341C>G
RBFOX2 transcript variant 15 NM_001349996.1:c.341= NM_001349996.1:c.341C>T NM_001349996.1:c.341C>G
RBFOX2 transcript variant 10 NM_001349990.2:c.338= NM_001349990.2:c.338C>T NM_001349990.2:c.338C>G
RBFOX2 transcript variant 10 NM_001349990.1:c.338= NM_001349990.1:c.338C>T NM_001349990.1:c.338C>G
RBFOX2 transcript variant 12 NM_001349992.2:c.338= NM_001349992.2:c.338C>T NM_001349992.2:c.338C>G
RBFOX2 transcript variant 12 NM_001349992.1:c.338= NM_001349992.1:c.338C>T NM_001349992.1:c.338C>G
RBFOX2 transcript variant 13 NM_001349994.2:c.338= NM_001349994.2:c.338C>T NM_001349994.2:c.338C>G
RBFOX2 transcript variant 13 NM_001349994.1:c.338= NM_001349994.1:c.338C>T NM_001349994.1:c.338C>G
RBFOX2 transcript variant 14 NM_001349995.2:c.338= NM_001349995.2:c.338C>T NM_001349995.2:c.338C>G
RBFOX2 transcript variant 14 NM_001349995.1:c.338= NM_001349995.1:c.338C>T NM_001349995.1:c.338C>G
RBFOX2 transcript variant 24 NM_001394113.1:c.482= NM_001394113.1:c.482C>T NM_001394113.1:c.482C>G
RBFOX2 transcript variant 23 NM_001394112.1:c.485= NM_001394112.1:c.485C>T NM_001394112.1:c.485C>G
RBFOX2 transcript variant 19 NM_001394108.1:c.482= NM_001394108.1:c.482C>T NM_001394108.1:c.482C>G
RBFOX2 transcript variant 25 NM_001394114.1:c.485= NM_001394114.1:c.485C>T NM_001394114.1:c.485C>G
RBFOX2 transcript variant 26 NM_001394115.1:c.482= NM_001394115.1:c.482C>T NM_001394115.1:c.482C>G
RBFOX2 transcript variant 21 NM_001394110.1:c.482= NM_001394110.1:c.482C>T NM_001394110.1:c.482C>G
RBFOX2 transcript variant 20 NM_001394109.1:c.485= NM_001394109.1:c.485C>T NM_001394109.1:c.485C>G
RBFOX2 transcript variant 22 NM_001394111.1:c.482= NM_001394111.1:c.482C>T NM_001394111.1:c.482C>G
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG4 NT_187630.1:g.102722= NT_187630.1:g.102722G>A NT_187630.1:g.102722G>C
RBFOX2 transcript variant X11 XM_006724189.4:c.341= XM_006724189.4:c.341C>T XM_006724189.4:c.341C>G
RBFOX2 transcript variant X14 XM_006724189.3:c.341= XM_006724189.3:c.341C>T XM_006724189.3:c.341C>G
RBFOX2 transcript variant X11 XM_006724189.2:c.341= XM_006724189.2:c.341C>T XM_006724189.2:c.341C>G
RBFOX2 transcript variant X15 XM_006724189.1:c.341= XM_006724189.1:c.341C>T XM_006724189.1:c.341C>G
RBFOX2 transcript variant X19 XM_006724193.4:c.485= XM_006724193.4:c.485C>T XM_006724193.4:c.485C>G
RBFOX2 transcript variant X20 XM_006724193.3:c.485= XM_006724193.3:c.485C>T XM_006724193.3:c.485C>G
RBFOX2 transcript variant X17 XM_006724193.2:c.485= XM_006724193.2:c.485C>T XM_006724193.2:c.485C>G
RBFOX2 transcript variant X19 XM_006724193.1:c.485= XM_006724193.1:c.485C>T XM_006724193.1:c.485C>G
RBFOX2 transcript variant X1 XM_006724185.3:c.485= XM_006724185.3:c.485C>T XM_006724185.3:c.485C>G
RBFOX2 transcript variant X1 XM_006724185.2:c.485= XM_006724185.2:c.485C>T XM_006724185.2:c.485C>G
RBFOX2 transcript variant X11 XM_006724185.1:c.485= XM_006724185.1:c.485C>T XM_006724185.1:c.485C>G
RBFOX2 transcript variant X3 XM_005261428.3:c.485= XM_005261428.3:c.485C>T XM_005261428.3:c.485C>G
RBFOX2 transcript variant X3 XM_005261428.2:c.485= XM_005261428.2:c.485C>T XM_005261428.2:c.485C>G
RBFOX2 transcript variant X1 XM_005261428.1:c.485= XM_005261428.1:c.485C>T XM_005261428.1:c.485C>G
RBFOX2 transcript variant X4 XM_005261429.3:c.482= XM_005261429.3:c.482C>T XM_005261429.3:c.482C>G
RBFOX2 transcript variant X4 XM_005261429.2:c.482= XM_005261429.2:c.482C>T XM_005261429.2:c.482C>G
RBFOX2 transcript variant X2 XM_005261429.1:c.482= XM_005261429.1:c.482C>T XM_005261429.1:c.482C>G
RBFOX2 transcript variant X5 XM_006724187.3:c.485= XM_006724187.3:c.485C>T XM_006724187.3:c.485C>G
RBFOX2 transcript variant X5 XM_006724187.2:c.485= XM_006724187.2:c.485C>T XM_006724187.2:c.485C>G
RBFOX2 transcript variant X13 XM_006724187.1:c.485= XM_006724187.1:c.485C>T XM_006724187.1:c.485C>G
RBFOX2 transcript variant X6 XM_005261430.3:c.485= XM_005261430.3:c.485C>T XM_005261430.3:c.485C>G
RBFOX2 transcript variant X7 XM_005261430.2:c.485= XM_005261430.2:c.485C>T XM_005261430.2:c.485C>G
RBFOX2 transcript variant X3 XM_005261430.1:c.485= XM_005261430.1:c.485C>T XM_005261430.1:c.485C>G
RBFOX2 transcript variant X8 XM_006724188.3:c.485= XM_006724188.3:c.485C>T XM_006724188.3:c.485C>G
RBFOX2 transcript variant X9 XM_006724188.2:c.485= XM_006724188.2:c.485C>T XM_006724188.2:c.485C>G
RBFOX2 transcript variant X14 XM_006724188.1:c.485= XM_006724188.1:c.485C>T XM_006724188.1:c.485C>G
RBFOX2 transcript variant X9 XM_017028687.3:c.407= XM_017028687.3:c.407C>T XM_017028687.3:c.407C>G
RBFOX2 transcript variant X10 XM_017028687.2:c.407= XM_017028687.2:c.407C>T XM_017028687.2:c.407C>G
RBFOX2 transcript variant X11 XM_017028687.1:c.407= XM_017028687.1:c.407C>T XM_017028687.1:c.407C>G
RBFOX2 transcript variant X18 XM_006724192.3:c.263= XM_006724192.3:c.263C>T XM_006724192.3:c.263C>G
RBFOX2 transcript variant X18 XM_006724192.2:c.263= XM_006724192.2:c.263C>T XM_006724192.2:c.263C>G
RBFOX2 transcript variant X18 XM_006724192.1:c.263= XM_006724192.1:c.263C>T XM_006724192.1:c.263C>G
RBFOX2 transcript variant X2 XM_006724186.3:c.482= XM_006724186.3:c.482C>T XM_006724186.3:c.482C>G
RBFOX2 transcript variant X2 XM_006724186.2:c.482= XM_006724186.2:c.482C>T XM_006724186.2:c.482C>G
RBFOX2 transcript variant X12 XM_006724186.1:c.482= XM_006724186.1:c.482C>T XM_006724186.1:c.482C>G
RBFOX2 transcript variant X13 XM_017028690.2:c.293= XM_017028690.2:c.293C>T XM_017028690.2:c.293C>G
RBFOX2 transcript variant X15 XM_017028690.1:c.293= XM_017028690.1:c.293C>T XM_017028690.1:c.293C>G
RBFOX2 transcript variant X14 XM_017028691.2:c.290= XM_017028691.2:c.290C>T XM_017028691.2:c.290C>G
RBFOX2 transcript variant X16 XM_017028691.1:c.290= XM_017028691.1:c.290C>T XM_017028691.1:c.290C>G
RBFOX2 transcript variant X15 XM_006724191.2:c.275= XM_006724191.2:c.275C>T XM_006724191.2:c.275C>G
RBFOX2 transcript variant X17 XM_006724191.1:c.275= XM_006724191.1:c.275C>T XM_006724191.1:c.275C>G
RBFOX2 transcript variant X17 XM_017028693.2:c.275= XM_017028693.2:c.275C>T XM_017028693.2:c.275C>G
RBFOX2 transcript variant X19 XM_017028693.1:c.275= XM_017028693.1:c.275C>T XM_017028693.1:c.275C>G
RBFOX2 transcript variant X10 XM_024452188.2:c.404= XM_024452188.2:c.404C>T XM_024452188.2:c.404C>G
RBFOX2 transcript variant X11 XM_024452188.1:c.404= XM_024452188.1:c.404C>T XM_024452188.1:c.404C>G
RBFOX2 transcript variant X24 XM_017028696.2:c.275= XM_017028696.2:c.275C>T XM_017028696.2:c.275C>G
RBFOX2 transcript variant X21 XM_017028696.1:c.275= XM_017028696.1:c.275C>T XM_017028696.1:c.275C>G
RBFOX2 transcript variant X27 XM_024452191.2:c.260= XM_024452191.2:c.260C>T XM_024452191.2:c.260C>G
RBFOX2 transcript variant X26 XM_024452191.1:c.260= XM_024452191.1:c.260C>T XM_024452191.1:c.260C>G
RBFOX2 transcript variant X29 XM_017028698.2:c.272= XM_017028698.2:c.272C>T XM_017028698.2:c.272C>G
RBFOX2 transcript variant X28 XM_017028698.1:c.272= XM_017028698.1:c.272C>T XM_017028698.1:c.272C>G
RBFOX2 transcript variant X26 XM_047441257.1:c.290= XM_047441257.1:c.290C>T XM_047441257.1:c.290C>G
RBFOX2 transcript variant X23 XM_047441255.1:c.275= XM_047441255.1:c.275C>T XM_047441255.1:c.275C>G
RBFOX2 transcript variant X20 XM_047441252.1:c.260= XM_047441252.1:c.260C>T XM_047441252.1:c.260C>G
RBFOX2 transcript variant X25 XM_047441256.1:c.272= XM_047441256.1:c.272C>T XM_047441256.1:c.272C>G
RBFOX2 transcript variant X21 XM_047441253.1:c.260= XM_047441253.1:c.260C>T XM_047441253.1:c.260C>G
RBFOX2 transcript variant X12 XM_047441250.1:c.341= XM_047441250.1:c.341C>T XM_047441250.1:c.341C>G
RBFOX2 transcript variant X7 XM_017028686.1:c.311= XM_017028686.1:c.311C>T XM_017028686.1:c.311C>G
RBFOX2 transcript variant X16 XM_047441251.1:c.341= XM_047441251.1:c.341C>T XM_047441251.1:c.341C>G
RBFOX2 transcript variant X22 XM_047441254.1:c.341= XM_047441254.1:c.341C>T XM_047441254.1:c.341C>G
RBFOX2 transcript variant X28 XM_047441258.1:c.260= XM_047441258.1:c.260C>T XM_047441258.1:c.260C>G
RBFOX2 transcript variant X30 XM_047441259.1:c.263= XM_047441259.1:c.263C>T XM_047441259.1:c.263C>G
RBFOX2 transcript variant X31 XM_047441260.1:c.260= XM_047441260.1:c.260C>T XM_047441260.1:c.260C>G
RNA binding protein fox-1 homolog 2 isoform 5 NP_001076047.2:p.Thr162= NP_001076047.2:p.Thr162Ile NP_001076047.2:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform 1 NP_001026865.1:p.Thr91= NP_001026865.1:p.Thr91Ile NP_001026865.1:p.Thr91Arg
RNA binding protein fox-1 homolog 2 isoform 2 NP_055124.1:p.Thr92= NP_055124.1:p.Thr92Ile NP_055124.1:p.Thr92Arg
RNA binding protein fox-1 homolog 2 isoform 6 NP_001076048.2:p.Thr161= NP_001076048.2:p.Thr161Ile NP_001076048.2:p.Thr161Arg
RNA binding protein fox-1 homolog 2 isoform 3 NP_001076045.1:p.Thr91= NP_001076045.1:p.Thr91Ile NP_001076045.1:p.Thr91Arg
RNA binding protein fox-1 homolog 2 isoform 4 NP_001076046.1:p.Thr91= NP_001076046.1:p.Thr91Ile NP_001076046.1:p.Thr91Arg
RNA binding protein fox-1 homolog 2 isoform 18 NP_001336928.2:p.Thr162= NP_001336928.2:p.Thr162Ile NP_001336928.2:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform 17 NP_001336927.1:p.Thr91= NP_001336927.1:p.Thr91Ile NP_001336927.1:p.Thr91Arg
RNA binding protein fox-1 homolog 2 isoform 7 NP_001336912.1:p.Thr91= NP_001336912.1:p.Thr91Ile NP_001336912.1:p.Thr91Arg
RNA binding protein fox-1 homolog 2 isoform 16 NP_001336926.1:p.Thr92= NP_001336926.1:p.Thr92Ile NP_001336926.1:p.Thr92Arg
RNA binding protein fox-1 homolog 2 isoform 11 NP_001336920.1:p.Thr113= NP_001336920.1:p.Thr113Ile NP_001336920.1:p.Thr113Arg
RNA binding protein fox-1 homolog 2 isoform 8 NP_001336911.1:p.Thr113= NP_001336911.1:p.Thr113Ile NP_001336911.1:p.Thr113Arg
RNA binding protein fox-1 homolog 2 isoform 9 NP_001336918.1:p.Thr113= NP_001336918.1:p.Thr113Ile NP_001336918.1:p.Thr113Arg
RNA binding protein fox-1 homolog 2 isoform 15 NP_001336925.1:p.Thr114= NP_001336925.1:p.Thr114Ile NP_001336925.1:p.Thr114Arg
RNA binding protein fox-1 homolog 2 isoform 10 NP_001336919.1:p.Thr113= NP_001336919.1:p.Thr113Ile NP_001336919.1:p.Thr113Arg
RNA binding protein fox-1 homolog 2 isoform 12 NP_001336921.1:p.Thr113= NP_001336921.1:p.Thr113Ile NP_001336921.1:p.Thr113Arg
RNA binding protein fox-1 homolog 2 isoform 13 NP_001336923.1:p.Thr113= NP_001336923.1:p.Thr113Ile NP_001336923.1:p.Thr113Arg
RNA binding protein fox-1 homolog 2 isoform 14 NP_001336924.1:p.Thr113= NP_001336924.1:p.Thr113Ile NP_001336924.1:p.Thr113Arg
RNA binding protein fox-1 homolog 2 isoform 24 NP_001381042.1:p.Thr161= NP_001381042.1:p.Thr161Ile NP_001381042.1:p.Thr161Arg
RNA binding protein fox-1 homolog 2 isoform 23 NP_001381041.1:p.Thr162= NP_001381041.1:p.Thr162Ile NP_001381041.1:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform 19 NP_001381037.1:p.Thr161= NP_001381037.1:p.Thr161Ile NP_001381037.1:p.Thr161Arg
RNA binding protein fox-1 homolog 2 isoform 25 NP_001381043.1:p.Thr162= NP_001381043.1:p.Thr162Ile NP_001381043.1:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform 26 NP_001381044.1:p.Thr161= NP_001381044.1:p.Thr161Ile NP_001381044.1:p.Thr161Arg
RNA binding protein fox-1 homolog 2 isoform 21 NP_001381039.1:p.Thr161= NP_001381039.1:p.Thr161Ile NP_001381039.1:p.Thr161Arg
RNA binding protein fox-1 homolog 2 isoform 20 NP_001381038.1:p.Thr162= NP_001381038.1:p.Thr162Ile NP_001381038.1:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform 22 NP_001381040.1:p.Thr161= NP_001381040.1:p.Thr161Ile NP_001381040.1:p.Thr161Arg
RNA binding protein fox-1 homolog 2 isoform X11 XP_006724252.1:p.Thr114= XP_006724252.1:p.Thr114Ile XP_006724252.1:p.Thr114Arg
RNA binding protein fox-1 homolog 2 isoform X19 XP_006724256.1:p.Thr162= XP_006724256.1:p.Thr162Ile XP_006724256.1:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform X1 XP_006724248.1:p.Thr162= XP_006724248.1:p.Thr162Ile XP_006724248.1:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform X3 XP_005261485.1:p.Thr162= XP_005261485.1:p.Thr162Ile XP_005261485.1:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform X4 XP_005261486.1:p.Thr161= XP_005261486.1:p.Thr161Ile XP_005261486.1:p.Thr161Arg
RNA binding protein fox-1 homolog 2 isoform X5 XP_006724250.1:p.Thr162= XP_006724250.1:p.Thr162Ile XP_006724250.1:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform X6 XP_005261487.1:p.Thr162= XP_005261487.1:p.Thr162Ile XP_005261487.1:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform X8 XP_006724251.1:p.Thr162= XP_006724251.1:p.Thr162Ile XP_006724251.1:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform X9 XP_016884176.1:p.Thr136= XP_016884176.1:p.Thr136Ile XP_016884176.1:p.Thr136Arg
RNA binding protein fox-1 homolog 2 isoform X18 XP_006724255.1:p.Thr88= XP_006724255.1:p.Thr88Ile XP_006724255.1:p.Thr88Arg
RNA binding protein fox-1 homolog 2 isoform X2 XP_006724249.1:p.Thr161= XP_006724249.1:p.Thr161Ile XP_006724249.1:p.Thr161Arg
RNA binding protein fox-1 homolog 2 isoform X13 XP_016884179.1:p.Thr98= XP_016884179.1:p.Thr98Ile XP_016884179.1:p.Thr98Arg
RNA binding protein fox-1 homolog 2 isoform X14 XP_016884180.1:p.Thr97= XP_016884180.1:p.Thr97Ile XP_016884180.1:p.Thr97Arg
RNA binding protein fox-1 homolog 2 isoform X15 XP_006724254.1:p.Thr92= XP_006724254.1:p.Thr92Ile XP_006724254.1:p.Thr92Arg
RNA binding protein fox-1 homolog 2 isoform X17 XP_016884182.1:p.Thr92= XP_016884182.1:p.Thr92Ile XP_016884182.1:p.Thr92Arg
RNA binding protein fox-1 homolog 2 isoform X10 XP_024307956.1:p.Thr135= XP_024307956.1:p.Thr135Ile XP_024307956.1:p.Thr135Arg
RNA binding protein fox-1 homolog 2 isoform X24 XP_016884185.1:p.Thr92= XP_016884185.1:p.Thr92Ile XP_016884185.1:p.Thr92Arg
RNA binding protein fox-1 homolog 2 isoform X27 XP_024307959.1:p.Thr87= XP_024307959.1:p.Thr87Ile XP_024307959.1:p.Thr87Arg
RNA binding protein fox-1 homolog 2 isoform X29 XP_016884187.1:p.Thr91= XP_016884187.1:p.Thr91Ile XP_016884187.1:p.Thr91Arg
RNA binding protein fox-1 homolog 2 isoform X26 XP_047297213.1:p.Thr97= XP_047297213.1:p.Thr97Ile XP_047297213.1:p.Thr97Arg
RNA binding protein fox-1 homolog 2 isoform X23 XP_047297211.1:p.Thr92= XP_047297211.1:p.Thr92Ile XP_047297211.1:p.Thr92Arg
RNA binding protein fox-1 homolog 2 isoform X20 XP_047297208.1:p.Thr87= XP_047297208.1:p.Thr87Ile XP_047297208.1:p.Thr87Arg
RNA binding protein fox-1 homolog 2 isoform X25 XP_047297212.1:p.Thr91= XP_047297212.1:p.Thr91Ile XP_047297212.1:p.Thr91Arg
RNA binding protein fox-1 homolog 2 isoform X21 XP_047297209.1:p.Thr87= XP_047297209.1:p.Thr87Ile XP_047297209.1:p.Thr87Arg
RNA binding protein fox-1 homolog 2 isoform X12 XP_047297206.1:p.Thr114= XP_047297206.1:p.Thr114Ile XP_047297206.1:p.Thr114Arg
RNA binding protein fox-1 homolog 2 isoform X7 XP_016884175.1:p.Thr104= XP_016884175.1:p.Thr104Ile XP_016884175.1:p.Thr104Arg
RNA binding protein fox-1 homolog 2 isoform X16 XP_047297207.1:p.Thr114= XP_047297207.1:p.Thr114Ile XP_047297207.1:p.Thr114Arg
RNA binding protein fox-1 homolog 2 isoform X22 XP_047297210.1:p.Thr114= XP_047297210.1:p.Thr114Ile XP_047297210.1:p.Thr114Arg
RNA binding protein fox-1 homolog 2 isoform X28 XP_047297214.1:p.Thr87= XP_047297214.1:p.Thr87Ile XP_047297214.1:p.Thr87Arg
RNA binding protein fox-1 homolog 2 isoform X30 XP_047297215.1:p.Thr88= XP_047297215.1:p.Thr88Ile XP_047297215.1:p.Thr88Arg
RNA binding protein fox-1 homolog 2 isoform X31 XP_047297216.1:p.Thr87= XP_047297216.1:p.Thr87Ile XP_047297216.1:p.Thr87Arg
RNA binding protein fox-1 homolog 2 isoform 5 NP_001076047.1:p.Thr162= NP_001076047.1:p.Thr162Ile NP_001076047.1:p.Thr162Arg
RNA binding protein fox-1 homolog 2 isoform 6 NP_001076048.1:p.Thr161= NP_001076048.1:p.Thr161Ile NP_001076048.1:p.Thr161Arg
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, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2750545805 Nov 08, 2017 (151)
2 GNOMAD ss2974351116 Nov 08, 2017 (151)
3 gnomAD - Genomes NC_000022.11 - 35781724 Apr 26, 2021 (155)
4 ALFA NC_000022.11 - 35781724 Apr 26, 2021 (155)
Help

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
ss2750545805, ss2974351116 NC_000022.10:36177770:G:A NC_000022.11:35781723:G:A (self)
569896048, 6216761652 NC_000022.11:35781723:G:A NC_000022.11:35781723:G:A (self)
6216761652 NC_000022.11:35781723:G:C NC_000022.11:35781723:G:C (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 rs1468251197

Help

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
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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