Canonical Allele Identifier: CA224912

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 97409
• ClinVar RCV Id: RCV000083659
• dbSNP Id: rs61750398
• MyVariant Identifiers: chr2:g.31754525C>G (hg19) ; chr2:g.31529455C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529455C>G , CM000664.2:g.31529455C>G	GRCh38
NC_000002.11:g.31754525C>G , CM000664.1:g.31754525C>G	GRCh37
NC_000002.10:g.31608029C>G	NCBI36
NG_008365.1:g.56517G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.550G>C MANE Select	ENSP00000477587.1:p.Gly184Arg
ENST00000622030.1:c.550G>C	ENSP00000477587.1:p.Gly184Arg
NM_000348.3:c.550G>C	NP_000339.2:p.Gly184Arg
XM_011533069.1:c.328G>C	XP_011531371.1:p.Gly110Arg
XM_011533070.1:c.295G>C	XP_011531372.1:p.Gly99Arg
XM_011533071.1:c.295G>C	XP_011531373.1:p.Gly99Arg
XM_011533072.1:c.295G>C	XP_011531374.1:p.Gly99Arg
XM_011533069.2:c.328G>C	XP_011531371.1:p.Gly110Arg
XM_011533072.2:c.295G>C	XP_011531374.1:p.Gly99Arg
NM_000348.4:c.550G>C MANE Select	NP_000339.2:p.Gly184Arg