Canonical Allele Identifier: CA7042015
Gene: SLC10A2 HGNC NCBI
COSMIC:
COSM1666308 (not active)
MyVariant.info:
GRCh38 chr13:g.103049340G>A
GRCh37 chr13:g.103701690G>A
Revel Score:
ENST00000245312 (MANE Select) 0.334
gnomAD v2:
13:103701690 G / A
gnomAD v3:
13:103049340 G / A
gnomAD v4:
chr13-103049340-G-A
Joint Max Group AF 0.01421853 (AMR)
Genomes Max Group AF 0.01425678 (AMR)
Exomes Max Group AF 0.01380459 (AMR)
ClinVar RCV:
RCV000416197
RCV000454501
ClinVar Variation:
374538
dbSNP:
56398830
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.103049340G>A , CM000675.2:g.103049340G>A GRCh38
NC_000013.10:g.103701690G>A , CM000675.1:g.103701690G>A GRCh37
NC_000013.9:g.102499691G>A NCBI36
NG_016648.1:g.22507C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245312.5:c.868C>T MANE Select ENSP00000245312.3:p.Pro290Ser
ENST00000245312.4:c.868C>T ENSP00000245312.3:p.Pro290Ser
NM_000452.2:c.868C>T NP_000443.1:p.Pro290Ser
NM_000452.3:c.868C>T MANE Select NP_000443.2:p.Pro290Ser
Search 100 bp 5'
Search 100 bp 3'