Canonical Allele Identifier: CA425567467

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31754478A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529408A>T , CM000664.2:g.31529408A>T	GRCh38
NC_000002.11:g.31754478A>T , CM000664.1:g.31754478A>T	GRCh37
NC_000002.10:g.31607982A>T	NCBI36
NG_008365.1:g.56564T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.597T>A MANE Select	ENSP00000477587.1:p.Ile199=
ENST00000622030.1:c.597T>A	ENSP00000477587.1:p.Ile199=
NM_000348.3:c.597T>A	NP_000339.2:p.Ile199=
XM_011533069.1:c.375T>A	XP_011531371.1:p.Ile125=
XM_011533070.1:c.342T>A	XP_011531372.1:p.Ile114=
XM_011533071.1:c.342T>A	XP_011531373.1:p.Ile114=
XM_011533072.1:c.342T>A	XP_011531374.1:p.Ile114=
XM_011533069.2:c.375T>A	XP_011531371.1:p.Ile125=
XM_011533072.2:c.342T>A	XP_011531374.1:p.Ile114=
NM_000348.4:c.597T>A MANE Select	NP_000339.2:p.Ile199=