Canonical Allele Identifier: CA346598045

Gene: SRD5A2

Linked Data

• MyVariant Identifiers: chr2:g.31754477C>G (hg19) ; chr2:g.31529407C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529407C>G , CM000664.2:g.31529407C>G	GRCh38
NC_000002.11:g.31754477C>G , CM000664.1:g.31754477C>G	GRCh37
NC_000002.10:g.31607981C>G	NCBI36
NG_008365.1:g.56565G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.598G>C MANE Select	ENSP00000477587.1:p.Glu200Gln
ENST00000622030.1:c.598G>C	ENSP00000477587.1:p.Glu200Gln
NM_000348.3:c.598G>C	NP_000339.2:p.Glu200Gln
XM_011533069.1:c.376G>C	XP_011531371.1:p.Glu126Gln
XM_011533070.1:c.343G>C	XP_011531372.1:p.Glu115Gln
XM_011533071.1:c.343G>C	XP_011531373.1:p.Glu115Gln
XM_011533072.1:c.343G>C	XP_011531374.1:p.Glu115Gln
XM_011533069.2:c.376G>C	XP_011531371.1:p.Glu126Gln
XM_011533072.2:c.343G>C	XP_011531374.1:p.Glu115Gln
NM_000348.4:c.598G>C MANE Select	NP_000339.2:p.Glu200Gln