Canonical Allele Identifier: CA425568534

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1332995697
• gnomAD v2: 2-31758827-C-T
• gnomAD v4: 2-31533757-C-T
• MyVariant Identifiers: chr2:g.31758827C>T (hg19) ; chr2:g.31533757C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533757C>T , CM000664.2:g.31533757C>T	GRCh38
NC_000002.11:g.31758827C>T , CM000664.1:g.31758827C>T	GRCh37
NC_000002.10:g.31612331C>T	NCBI36
NG_008365.1:g.52215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.291G>A MANE Select	ENSP00000477587.1:p.Val97=
ENST00000622030.1:c.291G>A	ENSP00000477587.1:p.Val97=
NM_000348.3:c.291G>A	NP_000339.2:p.Val97=
XM_011533068.1:c.291G>A	XP_011531370.1:p.Val97=
XM_011533069.1:c.69G>A	XP_011531371.1:p.Val23=
XM_011533070.1:c.36G>A	XP_011531372.1:p.Val12=
XM_011533071.1:c.36G>A	XP_011531373.1:p.Val12=
XM_011533072.1:c.36G>A	XP_011531374.1:p.Val12=
XM_011533069.2:c.69G>A	XP_011531371.1:p.Val23=
XM_011533072.2:c.36G>A	XP_011531374.1:p.Val12=
NM_000348.4:c.291G>A MANE Select	NP_000339.2:p.Val97=