Canonical Allele Identifier: CA425627062
Gene: SRD5A2 HGNC NCBI

Linked Data

dbSNP Id: rs779428810
gnomAD v4: 2-31580670-C-A
MyVariant Identifiers: chr2:g.31805740C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31580670C>A , CM000664.2:g.31580670C>A GRCh38
NC_000002.11:g.31805740C>A , CM000664.1:g.31805740C>A GRCh37
NC_000002.10:g.31659244C>A NCBI36
NG_008365.1:g.5302G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.231G>T MANE Select ENSP00000477587.1:p.Gly77=
ENST00000622030.1:c.231G>T ENSP00000477587.1:p.Gly77=
NM_000348.3:c.231G>T NP_000339.2:p.Gly77=
XM_011533068.1:c.231G>T XP_011531370.1:p.Gly77=
XM_011533070.1:c.27-46904G>T XP_011531372.1:n.27-46904G>T
XM_011533071.1:c.27-46904G>T XP_011531373.1:n.27-46904G>T
XM_011533072.1:c.27-46904G>T XP_011531374.1:n.27-46904G>T
XM_011533072.2:c.27-46904G>T XP_011531374.1:n.27-46904G>T
NM_000348.4:c.231G>T MANE Select NP_000339.2:p.Gly77=