Canonical Allele Identifier: CA340085
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3349
ClinVar RCV Id: RCV000003513
dbSNP Id: rs121434253
gnomAD v2: 2-31754484-C-A
gnomAD v4: 2-31529414-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529414C>A , CM000664.2:g.31529414C>A GRCh38
NC_000002.11:g.31754484C>A , CM000664.1:g.31754484C>A GRCh37
NC_000002.10:g.31607988C>A NCBI36
NG_008365.1:g.56558G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.591G>T MANE Select ENSP00000477587.1:p.Glu197Asp
ENST00000622030.1:c.591G>T ENSP00000477587.1:p.Glu197Asp
NM_000348.3:c.591G>T NP_000339.2:p.Glu197Asp
XM_011533069.1:c.369G>T XP_011531371.1:p.Glu123Asp
XM_011533070.1:c.336G>T XP_011531372.1:p.Glu112Asp
XM_011533071.1:c.336G>T XP_011531373.1:p.Glu112Asp
XM_011533072.1:c.336G>T XP_011531374.1:p.Glu112Asp
XM_011533069.2:c.369G>T XP_011531371.1:p.Glu123Asp
XM_011533072.2:c.336G>T XP_011531374.1:p.Glu112Asp
NM_000348.4:c.591G>T MANE Select NP_000339.2:p.Glu197Asp