Canonical Allele Identifier: CA031677
Gene: SLC10A2 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.103049423G>A
GRCh37 chr13:g.103701773G>A
Revel Score:
ENST00000245312 (MANE Select) 0.787
gnomAD v2:
13:103701773 G / A
gnomAD v3:
13:103049423 G / A
gnomAD v4:
chr13-103049423-G-A
Joint Max Group AF 0.00114252 (MID)
Genomes Max Group AF 0.00052058 (NFE)
Exomes Max Group AF 0.00120018 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.103049423G>A , CM000675.2:g.103049423G>A GRCh38
NC_000013.10:g.103701773G>A , CM000675.1:g.103701773G>A GRCh37
NC_000013.9:g.102499774G>A NCBI36
NG_016648.1:g.22424C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000245312.5:c.785C>T MANE Select ENSP00000245312.3:p.Thr262Met
ENST00000245312.4:c.785C>T ENSP00000245312.3:p.Thr262Met
NM_000452.2:c.785C>T NP_000443.1:p.Thr262Met
NM_000452.3:c.785C>T MANE Select NP_000443.2:p.Thr262Met
Search 100 bp 5'
Search 100 bp 3'