Canonical Allele Identifier: CA425568300

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31758728C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533658C>T , CM000664.2:g.31533658C>T	GRCh38
NC_000002.11:g.31758728C>T , CM000664.1:g.31758728C>T	GRCh37
NC_000002.10:g.31612232C>T	NCBI36
NG_008365.1:g.52314G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.390G>A MANE Select	ENSP00000477587.1:p.Leu130=
ENST00000622030.1:c.390G>A	ENSP00000477587.1:p.Leu130=
NM_000348.3:c.390G>A	NP_000339.2:p.Leu130=
XM_011533068.1:c.390G>A	XP_011531370.1:p.Leu130=
XM_011533069.1:c.168G>A	XP_011531371.1:p.Leu56=
XM_011533070.1:c.135G>A	XP_011531372.1:p.Leu45=
XM_011533071.1:c.135G>A	XP_011531373.1:p.Leu45=
XM_011533072.1:c.135G>A	XP_011531374.1:p.Leu45=
XM_011533069.2:c.168G>A	XP_011531371.1:p.Leu56=
XM_011533072.2:c.135G>A	XP_011531374.1:p.Leu45=
NM_000348.4:c.390G>A MANE Select	NP_000339.2:p.Leu130=