Canonical Allele Identifier: CA1599952

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 372519
• ClinVar RCV Id: RCV000413020 ; RCV000545602
• dbSNP Id: rs368386747
• ExAC: 2:31758741 T / C
• gnomAD v2: 2-31758741-T-C
• gnomAD v3: 2-31533671-T-C
• gnomAD v4: 2-31533671-T-C
• MyVariant Identifiers: chr2:g.31758741T>C (hg19) ; chr2:g.31533671T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533671T>C , CM000664.2:g.31533671T>C	GRCh38
NC_000002.11:g.31758741T>C , CM000664.1:g.31758741T>C	GRCh37
NC_000002.10:g.31612245T>C	NCBI36
NG_008365.1:g.52301A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.377A>G MANE Select	ENSP00000477587.1:p.Gln126Arg
ENST00000622030.1:c.377A>G	ENSP00000477587.1:p.Gln126Arg
NM_000348.3:c.377A>G	NP_000339.2:p.Gln126Arg
XM_011533068.1:c.377A>G	XP_011531370.1:p.Gln126Arg
XM_011533069.1:c.155A>G	XP_011531371.1:p.Gln52Arg
XM_011533070.1:c.122A>G	XP_011531372.1:p.Gln41Arg
XM_011533071.1:c.122A>G	XP_011531373.1:p.Gln41Arg
XM_011533072.1:c.122A>G	XP_011531374.1:p.Gln41Arg
XM_011533069.2:c.155A>G	XP_011531371.1:p.Gln52Arg
XM_011533072.2:c.122A>G	XP_011531374.1:p.Gln41Arg
NM_000348.4:c.377A>G MANE Select	NP_000339.2:p.Gln126Arg