Canonical Allele Identifier: CA1600004

Gene: SRD5A2

Linked Data

• dbSNP Id: rs746737164
• ExAC: 2:31805742 C / G
• gnomAD v2: 2-31805742-C-G
• gnomAD v4: 2-31580672-C-G
• MyVariant Identifiers: chr2:g.31805742C>G (hg19) ; chr2:g.31580672C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580672C>G , CM000664.2:g.31580672C>G	GRCh38
NC_000002.11:g.31805742C>G , CM000664.1:g.31805742C>G	GRCh37
NC_000002.10:g.31659246C>G	NCBI36
NG_008365.1:g.5300G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.229G>C MANE Select	ENSP00000477587.1:p.Gly77Arg
ENST00000622030.1:c.229G>C	ENSP00000477587.1:p.Gly77Arg
NM_000348.3:c.229G>C	NP_000339.2:p.Gly77Arg
XM_011533068.1:c.229G>C	XP_011531370.1:p.Gly77Arg
XM_011533070.1:c.27-46906G>C	XP_011531372.1:n.27-46906G>C
XM_011533071.1:c.27-46906G>C	XP_011531373.1:n.27-46906G>C
XM_011533072.1:c.27-46906G>C	XP_011531374.1:n.27-46906G>C
XM_011533072.2:c.27-46906G>C	XP_011531374.1:n.27-46906G>C
NM_000348.4:c.229G>C MANE Select	NP_000339.2:p.Gly77Arg