Canonical Allele Identifier: CA45140656

Gene: SRD5A2

Linked Data

• dbSNP Id: rs969048071
• gnomAD v3: 2-31568195-C-T
• gnomAD v4: 2-31568195-C-T
• MyVariant Identifiers: chr2:g.31793265C>T (hg19) ; chr2:g.31568195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31568195C>T , CM000664.2:g.31568195C>T	GRCh38
NC_000002.11:g.31793265C>T , CM000664.1:g.31793265C>T	GRCh37
NC_000002.10:g.31646769C>T	NCBI36
NG_008365.1:g.17777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+12425G>A MANE Select	ENSP00000477587.1:n.281+12425G>A
ENST00000622030.1:c.281+12425G>A	ENSP00000477587.1:n.281+12425G>A
NM_000348.3:c.281+12425G>A	NP_000339.2:n.281+12425G>A
XM_011533068.1:c.281+12425G>A	XP_011531370.1:n.281+12425G>A
XM_011533070.1:c.27-34429G>A	XP_011531372.1:n.27-34429G>A
XM_011533071.1:c.27-34429G>A	XP_011531373.1:n.27-34429G>A
XM_011533072.1:c.27-34429G>A	XP_011531374.1:n.27-34429G>A
XM_011533072.2:c.27-34429G>A	XP_011531374.1:n.27-34429G>A
NM_000348.4:c.281+12425G>A MANE Select	NP_000339.2:n.281+12425G>A