Canonical Allele Identifier: CA1600012

Gene: SRD5A2

Linked Data

• dbSNP Id: rs760689799
• ExAC: 2:31805773 C / A
• gnomAD v2: 2-31805773-C-A
• gnomAD v4: 2-31580703-C-A
• MyVariant Identifiers: chr2:g.31805773C>A (hg19) ; chr2:g.31580703C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580703C>A , CM000664.2:g.31580703C>A	GRCh38
NC_000002.11:g.31805773C>A , CM000664.1:g.31805773C>A	GRCh37
NC_000002.10:g.31659277C>A	NCBI36
NG_008365.1:g.5269G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.198G>T MANE Select	ENSP00000477587.1:p.Gly66=
ENST00000622030.1:c.198G>T	ENSP00000477587.1:p.Gly66=
NM_000348.3:c.198G>T	NP_000339.2:p.Gly66=
XM_011533068.1:c.198G>T	XP_011531370.1:p.Gly66=
XM_011533070.1:c.27-46937G>T	XP_011531372.1:n.27-46937G>T
XM_011533071.1:c.27-46937G>T	XP_011531373.1:n.27-46937G>T
XM_011533072.1:c.27-46937G>T	XP_011531374.1:n.27-46937G>T
XM_011533072.2:c.27-46937G>T	XP_011531374.1:n.27-46937G>T
NM_000348.4:c.198G>T MANE Select	NP_000339.2:p.Gly66=