Canonical Allele Identifier: CA346597874

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 459642
• ClinVar RCV Id: RCV000540681
• dbSNP Id: rs1553323488
• MyVariant Identifiers: chr2:g.31754392G>A (hg19) ; chr2:g.31529322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529322G>A , CM000664.2:g.31529322G>A	GRCh38
NC_000002.11:g.31754392G>A , CM000664.1:g.31754392G>A	GRCh37
NC_000002.10:g.31607896G>A	NCBI36
NG_008365.1:g.56650C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.683C>T MANE Select	ENSP00000477587.1:p.Ala228Val
ENST00000622030.1:c.683C>T	ENSP00000477587.1:p.Ala228Val
NM_000348.3:c.683C>T	NP_000339.2:p.Ala228Val
XM_011533069.1:c.461C>T	XP_011531371.1:p.Ala154Val
XM_011533070.1:c.428C>T	XP_011531372.1:p.Ala143Val
XM_011533071.1:c.428C>T	XP_011531373.1:p.Ala143Val
XM_011533072.1:c.428C>T	XP_011531374.1:p.Ala143Val
XM_011533069.2:c.461C>T	XP_011531371.1:p.Ala154Val
XM_011533072.2:c.428C>T	XP_011531374.1:p.Ala143Val
NM_000348.4:c.683C>T MANE Select	NP_000339.2:p.Ala228Val