Canonical Allele Identifier: CA425568413

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31758779G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533709G>C , CM000664.2:g.31533709G>C	GRCh38
NC_000002.11:g.31758779G>C , CM000664.1:g.31758779G>C	GRCh37
NC_000002.10:g.31612283G>C	NCBI36
NG_008365.1:g.52263C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.339C>G MANE Select	ENSP00000477587.1:p.Leu113=
ENST00000622030.1:c.339C>G	ENSP00000477587.1:p.Leu113=
NM_000348.3:c.339C>G	NP_000339.2:p.Leu113=
XM_011533068.1:c.339C>G	XP_011531370.1:p.Leu113=
XM_011533069.1:c.117C>G	XP_011531371.1:p.Leu39=
XM_011533070.1:c.84C>G	XP_011531372.1:p.Leu28=
XM_011533071.1:c.84C>G	XP_011531373.1:p.Leu28=
XM_011533072.1:c.84C>G	XP_011531374.1:p.Leu28=
XM_011533069.2:c.117C>G	XP_011531371.1:p.Leu39=
XM_011533072.2:c.84C>G	XP_011531374.1:p.Leu28=
NM_000348.4:c.339C>G MANE Select	NP_000339.2:p.Leu113=