Canonical Allele Identifier: CA346598974

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1401586494
• gnomAD v2: 2-31805801-T-G
• MyVariant Identifiers: chr2:g.31805801T>G (hg19) ; chr2:g.31580731T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580731T>G , CM000664.2:g.31580731T>G	GRCh38
NC_000002.11:g.31805801T>G , CM000664.1:g.31805801T>G	GRCh37
NC_000002.10:g.31659305T>G	NCBI36
NG_008365.1:g.5241A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.170A>C MANE Select	ENSP00000477587.1:p.Glu57Ala
ENST00000622030.1:c.170A>C	ENSP00000477587.1:p.Glu57Ala
NM_000348.3:c.170A>C	NP_000339.2:p.Glu57Ala
XM_011533068.1:c.170A>C	XP_011531370.1:p.Glu57Ala
XM_011533070.1:c.27-46965A>C	XP_011531372.1:n.27-46965A>C
XM_011533071.1:c.27-46965A>C	XP_011531373.1:n.27-46965A>C
XM_011533072.1:c.27-46965A>C	XP_011531374.1:n.27-46965A>C
XM_011533072.2:c.27-46965A>C	XP_011531374.1:n.27-46965A>C
NM_000348.4:c.170A>C MANE Select	NP_000339.2:p.Glu57Ala