Canonical Allele Identifier: CA425568421

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533712-A-G
• MyVariant Identifiers: chr2:g.31758782A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533712A>G , CM000664.2:g.31533712A>G	GRCh38
NC_000002.11:g.31758782A>G , CM000664.1:g.31758782A>G	GRCh37
NC_000002.10:g.31612286A>G	NCBI36
NG_008365.1:g.52260T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.336T>C MANE Select	ENSP00000477587.1:p.Ile112=
ENST00000622030.1:c.336T>C	ENSP00000477587.1:p.Ile112=
NM_000348.3:c.336T>C	NP_000339.2:p.Ile112=
XM_011533068.1:c.336T>C	XP_011531370.1:p.Ile112=
XM_011533069.1:c.114T>C	XP_011531371.1:p.Ile38=
XM_011533070.1:c.81T>C	XP_011531372.1:p.Ile27=
XM_011533071.1:c.81T>C	XP_011531373.1:p.Ile27=
XM_011533072.1:c.81T>C	XP_011531374.1:p.Ile27=
XM_011533069.2:c.114T>C	XP_011531371.1:p.Ile38=
XM_011533072.2:c.81T>C	XP_011531374.1:p.Ile27=
NM_000348.4:c.336T>C MANE Select	NP_000339.2:p.Ile112=