Canonical Allele Identifier: CA1599876
Gene: SRD5A2 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.31529385G>T
GRCh37 chr2:g.31754455G>T
gnomAD v2:
2:31754455 G / T
gnomAD v3:
2:31529385 G / T
gnomAD v4:
chr2-31529385-G-T
Joint Max Group AF 0.00001327 (AMR)
Exomes Max Group AF 0.00001779 (AMR)
ClinVar RCV:
RCV000634581
ClinVar Variation:
529238
dbSNP:
767564684
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529385G>T , CM000664.2:g.31529385G>T GRCh38
NC_000002.11:g.31754455G>T , CM000664.1:g.31754455G>T GRCh37
NC_000002.10:g.31607959G>T NCBI36
NG_008365.1:g.56587C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.620C>A MANE Select ENSP00000477587.1:p.Ala207Asp
ENST00000622030.1:c.620C>A ENSP00000477587.1:p.Ala207Asp
NM_000348.3:c.620C>A NP_000339.2:p.Ala207Asp
XM_011533069.1:c.398C>A XP_011531371.1:p.Ala133Asp
XM_011533070.1:c.365C>A XP_011531372.1:p.Ala122Asp
XM_011533071.1:c.365C>A XP_011531373.1:p.Ala122Asp
XM_011533072.1:c.365C>A XP_011531374.1:p.Ala122Asp
XM_011533069.2:c.398C>A XP_011531371.1:p.Ala133Asp
XM_011533072.2:c.365C>A XP_011531374.1:p.Ala122Asp
NM_000348.4:c.620C>A MANE Select NP_000339.2:p.Ala207Asp
Search 100 bp 5'
Search 100 bp 3'