Canonical Allele Identifier: CA346598552

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1470565060
• gnomAD v2: 2-31758742-G-A
• gnomAD v4: 2-31533672-G-A
• MyVariant Identifiers: chr2:g.31758742G>A (hg19) ; chr2:g.31533672G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533672G>A , CM000664.2:g.31533672G>A	GRCh38
NC_000002.11:g.31758742G>A , CM000664.1:g.31758742G>A	GRCh37
NC_000002.10:g.31612246G>A	NCBI36
NG_008365.1:g.52300C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.376C>T MANE Select	ENSP00000477587.1:p.Gln126Ter
ENST00000622030.1:c.376C>T	ENSP00000477587.1:p.Gln126Ter
NM_000348.3:c.376C>T	NP_000339.2:p.Gln126Ter
XM_011533068.1:c.376C>T	XP_011531370.1:p.Gln126Ter
XM_011533069.1:c.154C>T	XP_011531371.1:p.Gln52Ter
XM_011533070.1:c.121C>T	XP_011531372.1:p.Gln41Ter
XM_011533071.1:c.121C>T	XP_011531373.1:p.Gln41Ter
XM_011533072.1:c.121C>T	XP_011531374.1:p.Gln41Ter
XM_011533069.2:c.154C>T	XP_011531371.1:p.Gln52Ter
XM_011533072.2:c.121C>T	XP_011531374.1:p.Gln41Ter
NM_000348.4:c.376C>T MANE Select	NP_000339.2:p.Gln126Ter