Canonical Allele Identifier: CA45136527

Gene: SRD5A2

Linked Data

• dbSNP Id: rs888553241
• gnomAD v2: 2-31756468-C-T
• gnomAD v3: 2-31531398-C-T
• gnomAD v4: 2-31531398-C-T
• MyVariant Identifiers: chr2:g.31756468C>T (hg19) ; chr2:g.31531398C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531398C>T , CM000664.2:g.31531398C>T	GRCh38
NC_000002.11:g.31756468C>T , CM000664.1:g.31756468C>T	GRCh37
NC_000002.10:g.31609972C>T	NCBI36
NG_008365.1:g.54574G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.520G>A MANE Select	ENSP00000477587.1:p.Gly174Arg
ENST00000622030.1:c.520G>A	ENSP00000477587.1:p.Gly174Arg
NM_000348.3:c.520G>A	NP_000339.2:p.Gly174Arg
XM_011533069.1:c.298G>A	XP_011531371.1:p.Gly100Arg
XM_011533070.1:c.265G>A	XP_011531372.1:p.Gly89Arg
XM_011533071.1:c.265G>A	XP_011531373.1:p.Gly89Arg
XM_011533072.1:c.265G>A	XP_011531374.1:p.Gly89Arg
XM_011533069.2:c.298G>A	XP_011531371.1:p.Gly100Arg
XM_011533072.2:c.265G>A	XP_011531374.1:p.Gly89Arg
NM_000348.4:c.520G>A MANE Select	NP_000339.2:p.Gly174Arg