Canonical Allele Identifier: CA1599969
Gene: SRD5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 74593
dbSNP Id: rs267599353
gnomAD v2: 2-31758811-G-A
gnomAD v3: 2-31533741-G-A
gnomAD v4: 2-31533741-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31533741G>A , CM000664.2:g.31533741G>A GRCh38
NC_000002.11:g.31758811G>A , CM000664.1:g.31758811G>A GRCh37
NC_000002.10:g.31612315G>A NCBI36
NG_008365.1:g.52231C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.307C>T MANE Select ENSP00000477587.1:p.Arg103Ter
ENST00000622030.1:c.307C>T ENSP00000477587.1:p.Arg103Ter
NM_000348.3:c.307C>T NP_000339.2:p.Arg103Ter
XM_011533068.1:c.307C>T XP_011531370.1:p.Arg103Ter
XM_011533069.1:c.85C>T XP_011531371.1:p.Arg29Ter
XM_011533070.1:c.52C>T XP_011531372.1:p.Arg18Ter
XM_011533071.1:c.52C>T XP_011531373.1:p.Arg18Ter
XM_011533072.1:c.52C>T XP_011531374.1:p.Arg18Ter
XM_011533069.2:c.85C>T XP_011531371.1:p.Arg29Ter
XM_011533072.2:c.52C>T XP_011531374.1:p.Arg18Ter
NM_000348.4:c.307C>T MANE Select NP_000339.2:p.Arg103Ter