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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.

rs60065368

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:25762666-25762689 (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
del(A)16 / del(A)15 / del(A)14 / d…

del(A)16 / del(A)15 / del(A)14 / del(A)13 / del(A)12 / del(A)11 / del(A)10 / del(A)9 / del(A)8 / del(A)7 / del(A)6 / del(A)5 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)12 / dup(A)13 / dup(A)14 / dup(A)15 / dup(A)16 / dup(A)17 / dup(A)18 / dup(A)19 / dup(A)22 / dup(A)23 / ins(A)25 / ins(A)27 / ins(A)31 / ins(A)32

Variation Type
Indel Insertion and Deletion
Frequency
del(A)16=0.0000 (0/3480, ALFA)
del(A)15=0.0000 (0/3480, ALFA)
del(A)14=0.0000 (0/3480, ALFA) (+ 16 more)
del(A)13=0.0000 (0/3480, ALFA)
del(A)12=0.0000 (0/3480, ALFA)
del(A)11=0.0000 (0/3480, ALFA)
del(A)10=0.0000 (0/3480, ALFA)
del(A)9=0.0000 (0/3480, ALFA)
del(A)8=0.0000 (0/3480, ALFA)
del(A)7=0.0000 (0/3480, ALFA)
del(A)6=0.0000 (0/3480, ALFA)
del(A)5=0.0000 (0/3480, ALFA)
delAAA=0.0000 (0/3480, ALFA)
delAA=0.0000 (0/3480, ALFA)
delA=0.0000 (0/3480, ALFA)
dupA=0.0000 (0/3480, ALFA)
dupAA=0.0000 (0/3480, ALFA)
dupAAA=0.0000 (0/3480, ALFA)
dup(A)4=0.0000 (0/3480, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ASXL2 : Intron 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 3480 AAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 2196 AAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 738 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 28 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 710 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 82 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 66 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 16 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 38 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 246 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 42 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 138 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=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
Allele Frequency Aggregator Total Global 3480 (A)24=1.0000 del(A)16=0.0000, del(A)15=0.0000, del(A)14=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator European Sub 2196 (A)24=1.0000 del(A)16=0.0000, del(A)15=0.0000, del(A)14=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator African Sub 738 (A)24=1.000 del(A)16=0.000, del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Latin American 2 Sub 246 (A)24=1.000 del(A)16=0.000, del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Other Sub 138 (A)24=1.000 del(A)16=0.000, del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000
Allele Frequency Aggregator Asian Sub 82 (A)24=1.00 del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator South Asian Sub 42 (A)24=1.00 del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 38 (A)24=1.00 del(A)16=0.00, del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=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 2 NC_000002.12:g.25762674_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762675_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762676_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762677_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762678_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762679_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762680_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762681_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762682_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762683_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762684_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762685_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762687_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762688_25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762689del
GRCh38.p14 chr 2 NC_000002.12:g.25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762688_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762687_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762686_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762685_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762684_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762683_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762682_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762681_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762680_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762679_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762678_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762677_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762676_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762675_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762674_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762673_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762672_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762671_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762668_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762667_25762689dup
GRCh38.p14 chr 2 NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 2 NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25985543_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985544_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985545_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985546_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985547_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985548_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985549_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985550_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985551_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985552_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985553_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985554_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985556_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985557_25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985558del
GRCh37.p13 chr 2 NC_000002.11:g.25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985557_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985556_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985555_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985554_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985553_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985552_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985551_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985550_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985549_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985548_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985547_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985546_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985545_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985544_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985543_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985542_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985541_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985540_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985537_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985536_25985558dup
GRCh37.p13 chr 2 NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120836_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120837_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120838_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120839_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120840_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120841_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120842_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120843_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120844_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120845_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120846_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120847_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120849_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120850_120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120851del
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120850_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120849_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120848_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120847_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120846_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120845_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120844_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120843_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120842_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120841_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120840_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120839_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120838_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120837_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120836_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120835_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120834_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120833_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120830_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120829_120851dup
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene: ASXL2, ASXL transcriptional regulator 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ASXL2 transcript variant 2 NM_001369346.1:c.602-3036…

NM_001369346.1:c.602-3036_602-3021del

N/A Intron Variant
ASXL2 transcript variant 3 NM_001369347.1:c.-5-3036_…

NM_001369347.1:c.-5-3036_-5-3021del

N/A Intron Variant
ASXL2 transcript variant 1 NM_018263.6:c.776-3036_77…

NM_018263.6:c.776-3036_776-3021del

N/A Intron 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 (A)24= del(A)16 del(A)15 del(A)14 del(A)13 del(A)12 del(A)11 del(A)10 del(A)9 del(A)8 del(A)7 del(A)6 del(A)5 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 dup(A)12 dup(A)13 dup(A)14 dup(A)15 dup(A)16 dup(A)17 dup(A)18 dup(A)19 dup(A)22 dup(A)23 ins(A)25 ins(A)27 ins(A)31 ins(A)32
GRCh38.p14 chr 2 NC_000002.12:g.25762666_25762689= NC_000002.12:g.25762674_25762689del NC_000002.12:g.25762675_25762689del NC_000002.12:g.25762676_25762689del NC_000002.12:g.25762677_25762689del NC_000002.12:g.25762678_25762689del NC_000002.12:g.25762679_25762689del NC_000002.12:g.25762680_25762689del NC_000002.12:g.25762681_25762689del NC_000002.12:g.25762682_25762689del NC_000002.12:g.25762683_25762689del NC_000002.12:g.25762684_25762689del NC_000002.12:g.25762685_25762689del NC_000002.12:g.25762687_25762689del NC_000002.12:g.25762688_25762689del NC_000002.12:g.25762689del NC_000002.12:g.25762689dup NC_000002.12:g.25762688_25762689dup NC_000002.12:g.25762687_25762689dup NC_000002.12:g.25762686_25762689dup NC_000002.12:g.25762685_25762689dup NC_000002.12:g.25762684_25762689dup NC_000002.12:g.25762683_25762689dup NC_000002.12:g.25762682_25762689dup NC_000002.12:g.25762681_25762689dup NC_000002.12:g.25762680_25762689dup NC_000002.12:g.25762679_25762689dup NC_000002.12:g.25762678_25762689dup NC_000002.12:g.25762677_25762689dup NC_000002.12:g.25762676_25762689dup NC_000002.12:g.25762675_25762689dup NC_000002.12:g.25762674_25762689dup NC_000002.12:g.25762673_25762689dup NC_000002.12:g.25762672_25762689dup NC_000002.12:g.25762671_25762689dup NC_000002.12:g.25762668_25762689dup NC_000002.12:g.25762667_25762689dup NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.12:g.25762689_25762690insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2 NC_000002.11:g.25985535_25985558= NC_000002.11:g.25985543_25985558del NC_000002.11:g.25985544_25985558del NC_000002.11:g.25985545_25985558del NC_000002.11:g.25985546_25985558del NC_000002.11:g.25985547_25985558del NC_000002.11:g.25985548_25985558del NC_000002.11:g.25985549_25985558del NC_000002.11:g.25985550_25985558del NC_000002.11:g.25985551_25985558del NC_000002.11:g.25985552_25985558del NC_000002.11:g.25985553_25985558del NC_000002.11:g.25985554_25985558del NC_000002.11:g.25985556_25985558del NC_000002.11:g.25985557_25985558del NC_000002.11:g.25985558del NC_000002.11:g.25985558dup NC_000002.11:g.25985557_25985558dup NC_000002.11:g.25985556_25985558dup NC_000002.11:g.25985555_25985558dup NC_000002.11:g.25985554_25985558dup NC_000002.11:g.25985553_25985558dup NC_000002.11:g.25985552_25985558dup NC_000002.11:g.25985551_25985558dup NC_000002.11:g.25985550_25985558dup NC_000002.11:g.25985549_25985558dup NC_000002.11:g.25985548_25985558dup NC_000002.11:g.25985547_25985558dup NC_000002.11:g.25985546_25985558dup NC_000002.11:g.25985545_25985558dup NC_000002.11:g.25985544_25985558dup NC_000002.11:g.25985543_25985558dup NC_000002.11:g.25985542_25985558dup NC_000002.11:g.25985541_25985558dup NC_000002.11:g.25985540_25985558dup NC_000002.11:g.25985537_25985558dup NC_000002.11:g.25985536_25985558dup NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000002.11:g.25985558_25985559insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ASXL2 RefSeqGene (LRG_1421) NG_052995.1:g.120828_120851= NG_052995.1:g.120836_120851del NG_052995.1:g.120837_120851del NG_052995.1:g.120838_120851del NG_052995.1:g.120839_120851del NG_052995.1:g.120840_120851del NG_052995.1:g.120841_120851del NG_052995.1:g.120842_120851del NG_052995.1:g.120843_120851del NG_052995.1:g.120844_120851del NG_052995.1:g.120845_120851del NG_052995.1:g.120846_120851del NG_052995.1:g.120847_120851del NG_052995.1:g.120849_120851del NG_052995.1:g.120850_120851del NG_052995.1:g.120851del NG_052995.1:g.120851dup NG_052995.1:g.120850_120851dup NG_052995.1:g.120849_120851dup NG_052995.1:g.120848_120851dup NG_052995.1:g.120847_120851dup NG_052995.1:g.120846_120851dup NG_052995.1:g.120845_120851dup NG_052995.1:g.120844_120851dup NG_052995.1:g.120843_120851dup NG_052995.1:g.120842_120851dup NG_052995.1:g.120841_120851dup NG_052995.1:g.120840_120851dup NG_052995.1:g.120839_120851dup NG_052995.1:g.120838_120851dup NG_052995.1:g.120837_120851dup NG_052995.1:g.120836_120851dup NG_052995.1:g.120835_120851dup NG_052995.1:g.120834_120851dup NG_052995.1:g.120833_120851dup NG_052995.1:g.120830_120851dup NG_052995.1:g.120829_120851dup NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTT NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NG_052995.1:g.120851_120852insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASXL2 transcript variant 2 NM_001369346.1:c.602-3021= NM_001369346.1:c.602-3036_602-3021del NM_001369346.1:c.602-3035_602-3021del NM_001369346.1:c.602-3034_602-3021del NM_001369346.1:c.602-3033_602-3021del NM_001369346.1:c.602-3032_602-3021del NM_001369346.1:c.602-3031_602-3021del NM_001369346.1:c.602-3030_602-3021del NM_001369346.1:c.602-3029_602-3021del NM_001369346.1:c.602-3028_602-3021del NM_001369346.1:c.602-3027_602-3021del NM_001369346.1:c.602-3026_602-3021del NM_001369346.1:c.602-3025_602-3021del NM_001369346.1:c.602-3023_602-3021del NM_001369346.1:c.602-3022_602-3021del NM_001369346.1:c.602-3021del NM_001369346.1:c.602-3021dup NM_001369346.1:c.602-3022_602-3021dup NM_001369346.1:c.602-3023_602-3021dup NM_001369346.1:c.602-3024_602-3021dup NM_001369346.1:c.602-3025_602-3021dup NM_001369346.1:c.602-3026_602-3021dup NM_001369346.1:c.602-3027_602-3021dup NM_001369346.1:c.602-3028_602-3021dup NM_001369346.1:c.602-3029_602-3021dup NM_001369346.1:c.602-3030_602-3021dup NM_001369346.1:c.602-3031_602-3021dup NM_001369346.1:c.602-3032_602-3021dup NM_001369346.1:c.602-3033_602-3021dup NM_001369346.1:c.602-3034_602-3021dup NM_001369346.1:c.602-3035_602-3021dup NM_001369346.1:c.602-3036_602-3021dup NM_001369346.1:c.602-3037_602-3021dup NM_001369346.1:c.602-3038_602-3021dup NM_001369346.1:c.602-3039_602-3021dup NM_001369346.1:c.602-3042_602-3021dup NM_001369346.1:c.602-3043_602-3021dup NM_001369346.1:c.602-3021_602-3020insTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369346.1:c.602-3021_602-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369346.1:c.602-3021_602-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369346.1:c.602-3021_602-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASXL2 transcript variant 3 NM_001369347.1:c.-5-3021= NM_001369347.1:c.-5-3036_-5-3021del NM_001369347.1:c.-5-3035_-5-3021del NM_001369347.1:c.-5-3034_-5-3021del NM_001369347.1:c.-5-3033_-5-3021del NM_001369347.1:c.-5-3032_-5-3021del NM_001369347.1:c.-5-3031_-5-3021del NM_001369347.1:c.-5-3030_-5-3021del NM_001369347.1:c.-5-3029_-5-3021del NM_001369347.1:c.-5-3028_-5-3021del NM_001369347.1:c.-5-3027_-5-3021del NM_001369347.1:c.-5-3026_-5-3021del NM_001369347.1:c.-5-3025_-5-3021del NM_001369347.1:c.-5-3023_-5-3021del NM_001369347.1:c.-5-3022_-5-3021del NM_001369347.1:c.-5-3021del NM_001369347.1:c.-5-3021dup NM_001369347.1:c.-5-3022_-5-3021dup NM_001369347.1:c.-5-3023_-5-3021dup NM_001369347.1:c.-5-3024_-5-3021dup NM_001369347.1:c.-5-3025_-5-3021dup NM_001369347.1:c.-5-3026_-5-3021dup NM_001369347.1:c.-5-3027_-5-3021dup NM_001369347.1:c.-5-3028_-5-3021dup NM_001369347.1:c.-5-3029_-5-3021dup NM_001369347.1:c.-5-3030_-5-3021dup NM_001369347.1:c.-5-3031_-5-3021dup NM_001369347.1:c.-5-3032_-5-3021dup NM_001369347.1:c.-5-3033_-5-3021dup NM_001369347.1:c.-5-3034_-5-3021dup NM_001369347.1:c.-5-3035_-5-3021dup NM_001369347.1:c.-5-3036_-5-3021dup NM_001369347.1:c.-5-3037_-5-3021dup NM_001369347.1:c.-5-3038_-5-3021dup NM_001369347.1:c.-5-3039_-5-3021dup NM_001369347.1:c.-5-3042_-5-3021dup NM_001369347.1:c.-5-3043_-5-3021dup NM_001369347.1:c.-5-3021_-5-3020insTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369347.1:c.-5-3021_-5-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369347.1:c.-5-3021_-5-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_001369347.1:c.-5-3021_-5-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASXL2 transcript NM_018263.4:c.776-3021= NM_018263.4:c.776-3036_776-3021del NM_018263.4:c.776-3035_776-3021del NM_018263.4:c.776-3034_776-3021del NM_018263.4:c.776-3033_776-3021del NM_018263.4:c.776-3032_776-3021del NM_018263.4:c.776-3031_776-3021del NM_018263.4:c.776-3030_776-3021del NM_018263.4:c.776-3029_776-3021del NM_018263.4:c.776-3028_776-3021del NM_018263.4:c.776-3027_776-3021del NM_018263.4:c.776-3026_776-3021del NM_018263.4:c.776-3025_776-3021del NM_018263.4:c.776-3023_776-3021del NM_018263.4:c.776-3022_776-3021del NM_018263.4:c.776-3021del NM_018263.4:c.776-3021dup NM_018263.4:c.776-3022_776-3021dup NM_018263.4:c.776-3023_776-3021dup NM_018263.4:c.776-3024_776-3021dup NM_018263.4:c.776-3025_776-3021dup NM_018263.4:c.776-3026_776-3021dup NM_018263.4:c.776-3027_776-3021dup NM_018263.4:c.776-3028_776-3021dup NM_018263.4:c.776-3029_776-3021dup NM_018263.4:c.776-3030_776-3021dup NM_018263.4:c.776-3031_776-3021dup NM_018263.4:c.776-3032_776-3021dup NM_018263.4:c.776-3033_776-3021dup NM_018263.4:c.776-3034_776-3021dup NM_018263.4:c.776-3035_776-3021dup NM_018263.4:c.776-3036_776-3021dup NM_018263.4:c.776-3037_776-3021dup NM_018263.4:c.776-3038_776-3021dup NM_018263.4:c.776-3039_776-3021dup NM_018263.4:c.776-3042_776-3021dup NM_018263.4:c.776-3043_776-3021dup NM_018263.4:c.776-3021_776-3020insTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.4:c.776-3021_776-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.4:c.776-3021_776-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.4:c.776-3021_776-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASXL2 transcript variant 1 NM_018263.6:c.776-3021= NM_018263.6:c.776-3036_776-3021del NM_018263.6:c.776-3035_776-3021del NM_018263.6:c.776-3034_776-3021del NM_018263.6:c.776-3033_776-3021del NM_018263.6:c.776-3032_776-3021del NM_018263.6:c.776-3031_776-3021del NM_018263.6:c.776-3030_776-3021del NM_018263.6:c.776-3029_776-3021del NM_018263.6:c.776-3028_776-3021del NM_018263.6:c.776-3027_776-3021del NM_018263.6:c.776-3026_776-3021del NM_018263.6:c.776-3025_776-3021del NM_018263.6:c.776-3023_776-3021del NM_018263.6:c.776-3022_776-3021del NM_018263.6:c.776-3021del NM_018263.6:c.776-3021dup NM_018263.6:c.776-3022_776-3021dup NM_018263.6:c.776-3023_776-3021dup NM_018263.6:c.776-3024_776-3021dup NM_018263.6:c.776-3025_776-3021dup NM_018263.6:c.776-3026_776-3021dup NM_018263.6:c.776-3027_776-3021dup NM_018263.6:c.776-3028_776-3021dup NM_018263.6:c.776-3029_776-3021dup NM_018263.6:c.776-3030_776-3021dup NM_018263.6:c.776-3031_776-3021dup NM_018263.6:c.776-3032_776-3021dup NM_018263.6:c.776-3033_776-3021dup NM_018263.6:c.776-3034_776-3021dup NM_018263.6:c.776-3035_776-3021dup NM_018263.6:c.776-3036_776-3021dup NM_018263.6:c.776-3037_776-3021dup NM_018263.6:c.776-3038_776-3021dup NM_018263.6:c.776-3039_776-3021dup NM_018263.6:c.776-3042_776-3021dup NM_018263.6:c.776-3043_776-3021dup NM_018263.6:c.776-3021_776-3020insTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.6:c.776-3021_776-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.6:c.776-3021_776-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT NM_018263.6:c.776-3021_776-3020insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
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#.

59 SubSNP, 48 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss80721370 Dec 15, 2007 (129)
2 HGSV ss80755167 Dec 15, 2007 (129)
3 HGSV ss83438049 Dec 15, 2007 (129)
4 HUMANGENOME_JCVI ss95267156 Feb 04, 2009 (130)
5 PJP ss294976516 May 31, 2013 (138)
6 SWEGEN ss2989154775 Nov 08, 2017 (151)
7 PACBIO ss3783808274 Jul 12, 2019 (153)
8 PACBIO ss3789404843 Jul 12, 2019 (153)
9 PACBIO ss3794277597 Jul 12, 2019 (153)
10 EVA ss3826875255 Apr 25, 2020 (154)
11 GNOMAD ss4037429940 Apr 27, 2021 (155)
12 GNOMAD ss4037429941 Apr 27, 2021 (155)
13 GNOMAD ss4037429942 Apr 27, 2021 (155)
14 GNOMAD ss4037429943 Apr 27, 2021 (155)
15 GNOMAD ss4037429944 Apr 27, 2021 (155)
16 GNOMAD ss4037429945 Apr 27, 2021 (155)
17 GNOMAD ss4037429946 Apr 27, 2021 (155)
18 GNOMAD ss4037429947 Apr 27, 2021 (155)
19 GNOMAD ss4037429948 Apr 27, 2021 (155)
20 GNOMAD ss4037429949 Apr 27, 2021 (155)
21 GNOMAD ss4037429950 Apr 27, 2021 (155)
22 GNOMAD ss4037429951 Apr 27, 2021 (155)
23 GNOMAD ss4037429952 Apr 27, 2021 (155)
24 GNOMAD ss4037429953 Apr 27, 2021 (155)
25 GNOMAD ss4037429954 Apr 27, 2021 (155)
26 GNOMAD ss4037429955 Apr 27, 2021 (155)
27 GNOMAD ss4037429956 Apr 27, 2021 (155)
28 GNOMAD ss4037429957 Apr 27, 2021 (155)
29 GNOMAD ss4037429958 Apr 27, 2021 (155)
30 GNOMAD ss4037429959 Apr 27, 2021 (155)
31 GNOMAD ss4037429960 Apr 27, 2021 (155)
32 GNOMAD ss4037429961 Apr 27, 2021 (155)
33 GNOMAD ss4037429962 Apr 27, 2021 (155)
34 GNOMAD ss4037429963 Apr 27, 2021 (155)
35 GNOMAD ss4037429964 Apr 27, 2021 (155)
36 GNOMAD ss4037429967 Apr 27, 2021 (155)
37 GNOMAD ss4037429968 Apr 27, 2021 (155)
38 GNOMAD ss4037429969 Apr 27, 2021 (155)
39 GNOMAD ss4037429970 Apr 27, 2021 (155)
40 GNOMAD ss4037429971 Apr 27, 2021 (155)
41 GNOMAD ss4037429972 Apr 27, 2021 (155)
42 GNOMAD ss4037429973 Apr 27, 2021 (155)
43 GNOMAD ss4037429974 Apr 27, 2021 (155)
44 GNOMAD ss4037429975 Apr 27, 2021 (155)
45 GNOMAD ss4037429976 Apr 27, 2021 (155)
46 GNOMAD ss4037429977 Apr 27, 2021 (155)
47 TOMMO_GENOMICS ss5150365416 Apr 27, 2021 (155)
48 TOMMO_GENOMICS ss5150365417 Apr 27, 2021 (155)
49 TOMMO_GENOMICS ss5150365418 Apr 27, 2021 (155)
50 TOMMO_GENOMICS ss5150365419 Apr 27, 2021 (155)
51 TOMMO_GENOMICS ss5150365420 Apr 27, 2021 (155)
52 HUGCELL_USP ss5447571475 Oct 17, 2022 (156)
53 HUGCELL_USP ss5447571476 Oct 17, 2022 (156)
54 HUGCELL_USP ss5447571477 Oct 17, 2022 (156)
55 TOMMO_GENOMICS ss5678699270 Oct 17, 2022 (156)
56 TOMMO_GENOMICS ss5678699271 Oct 17, 2022 (156)
57 TOMMO_GENOMICS ss5678699272 Oct 17, 2022 (156)
58 TOMMO_GENOMICS ss5678699273 Oct 17, 2022 (156)
59 TOMMO_GENOMICS ss5678699274 Oct 17, 2022 (156)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
63 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
64 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
65 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
66 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
67 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
68 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
69 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
80 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
81 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
82 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
83 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
84 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
85 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
86 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
87 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
88 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 51630543 (NC_000002.12:25762665::A 1742/31646)
Row 51630544 (NC_000002.12:25762665::AA 2034/31668)
Row 51630545 (NC_000002.12:25762665::AAA 18/31638)...

- Apr 27, 2021 (155)
97 8.3KJPN

Submission ignored due to conflicting rows:
Row 8334723 (NC_000002.11:25985534::AAAAAAAAA 116/15884)
Row 8334724 (NC_000002.11:25985534::AAAAAAAAAA 43/15884)
Row 8334725 (NC_000002.11:25985534::A 317/15884)...

- Apr 27, 2021 (155)
98 8.3KJPN

Submission ignored due to conflicting rows:
Row 8334723 (NC_000002.11:25985534::AAAAAAAAA 116/15884)
Row 8334724 (NC_000002.11:25985534::AAAAAAAAAA 43/15884)
Row 8334725 (NC_000002.11:25985534::A 317/15884)...

- Apr 27, 2021 (155)
99 8.3KJPN

Submission ignored due to conflicting rows:
Row 8334723 (NC_000002.11:25985534::AAAAAAAAA 116/15884)
Row 8334724 (NC_000002.11:25985534::AAAAAAAAAA 43/15884)
Row 8334725 (NC_000002.11:25985534::A 317/15884)...

- Apr 27, 2021 (155)
100 8.3KJPN

Submission ignored due to conflicting rows:
Row 8334723 (NC_000002.11:25985534::AAAAAAAAA 116/15884)
Row 8334724 (NC_000002.11:25985534::AAAAAAAAAA 43/15884)
Row 8334725 (NC_000002.11:25985534::A 317/15884)...

- Apr 27, 2021 (155)
101 8.3KJPN

Submission ignored due to conflicting rows:
Row 8334723 (NC_000002.11:25985534::AAAAAAAAA 116/15884)
Row 8334724 (NC_000002.11:25985534::AAAAAAAAAA 43/15884)
Row 8334725 (NC_000002.11:25985534::A 317/15884)...

- Apr 27, 2021 (155)
102 14KJPN

Submission ignored due to conflicting rows:
Row 12536374 (NC_000002.12:25762665:A: 1796/24320)
Row 12536375 (NC_000002.12:25762665::AAAAAAAAAA 26/24320)
Row 12536376 (NC_000002.12:25762665::AAAAAAAAA 84/24320)...

- Oct 17, 2022 (156)
103 14KJPN

Submission ignored due to conflicting rows:
Row 12536374 (NC_000002.12:25762665:A: 1796/24320)
Row 12536375 (NC_000002.12:25762665::AAAAAAAAAA 26/24320)
Row 12536376 (NC_000002.12:25762665::AAAAAAAAA 84/24320)...

- Oct 17, 2022 (156)
104 14KJPN

Submission ignored due to conflicting rows:
Row 12536374 (NC_000002.12:25762665:A: 1796/24320)
Row 12536375 (NC_000002.12:25762665::AAAAAAAAAA 26/24320)
Row 12536376 (NC_000002.12:25762665::AAAAAAAAA 84/24320)...

- Oct 17, 2022 (156)
105 14KJPN

Submission ignored due to conflicting rows:
Row 12536374 (NC_000002.12:25762665:A: 1796/24320)
Row 12536375 (NC_000002.12:25762665::AAAAAAAAAA 26/24320)
Row 12536376 (NC_000002.12:25762665::AAAAAAAAA 84/24320)...

- Oct 17, 2022 (156)
106 14KJPN

Submission ignored due to conflicting rows:
Row 12536374 (NC_000002.12:25762665:A: 1796/24320)
Row 12536375 (NC_000002.12:25762665::AAAAAAAAAA 26/24320)
Row 12536376 (NC_000002.12:25762665::AAAAAAAAA 84/24320)...

- Oct 17, 2022 (156)
107 ALFA NC_000002.12 - 25762666 Apr 27, 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
ss4037429977 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAA:

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4037429976 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAA:

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4037429975 NC_000002.12:25762665:AAAAAAAAAAAA: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4037429974 NC_000002.12:25762665:AAAAAAAAAAA: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4037429973 NC_000002.12:25762665:AAAAAAAAAA: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4037429972 NC_000002.12:25762665:AAAAAAAAA: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4037429971 NC_000002.12:25762665:AAAAAAAA: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4037429970 NC_000002.12:25762665:AAAAAAA: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4037429969 NC_000002.12:25762665:AAAAAA: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4037429968 NC_000002.12:25762665:AAAAA: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3783808274, ss5150365420 NC_000002.11:25985534:AA: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429967, ss5447571476, ss5678699274 NC_000002.12:25762665:AA: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss2989154775, ss3789404843, ss3794277597, ss5150365419 NC_000002.11:25985534:A: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5447571475, ss5678699270 NC_000002.12:25762665:A: NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5150365418 NC_000002.11:25985534::A NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429940, ss5678699273 NC_000002.12:25762665::A NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss294976516 NC_000002.10:25839061::AA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429941, ss5447571477 NC_000002.12:25762665::AA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss80721370, ss80755167, ss83438049, ss95267156 NT_022184.15:4807445::AA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429942 NC_000002.12:25762665::AAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429943 NC_000002.12:25762665::AAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
392428773 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429944 NC_000002.12:25762665::AAAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429945 NC_000002.12:25762665::AAAAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429946 NC_000002.12:25762665::AAAAAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429947 NC_000002.12:25762665::AAAAAAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5150365416 NC_000002.11:25985534::AAAAAAAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429948, ss5678699272 NC_000002.12:25762665::AAAAAAAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5150365417 NC_000002.11:25985534::AAAAAAAAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429949, ss5678699271 NC_000002.12:25762665::AAAAAAAAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3826875255 NC_000002.11:25985534::AAAAAAAAAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429950 NC_000002.12:25762665::AAAAAAAAAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429951 NC_000002.12:25762665::AAAAAAAAAAAA NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429952 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429953 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429954 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429955 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429956 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429957 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429958 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429959 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429960 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429961 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429962 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429963 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4037429964 NC_000002.12:25762665::AAAAAAAAAAA…

NC_000002.12:25762665::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3302139759 NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAA:

NC_000002.12:25762665:AAAAAAAAAAAA…

NC_000002.12:25762665:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs60065368

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
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