Canonical Allele Identifier: CA45142004

Gene: SRD5A2

Linked Data

• dbSNP Id: rs988321058
• gnomAD v3: 2-31580303-A-G
• gnomAD v4: 2-31580303-A-G
• MyVariant Identifiers: chr2:g.31805373A>G (hg19) ; chr2:g.31580303A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580303A>G , CM000664.2:g.31580303A>G	GRCh38
NC_000002.11:g.31805373A>G , CM000664.1:g.31805373A>G	GRCh37
NC_000002.10:g.31658877A>G	NCBI36
NG_008365.1:g.5669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+317T>C MANE Select	ENSP00000477587.1:n.281+317T>C
ENST00000622030.1:c.281+317T>C	ENSP00000477587.1:n.281+317T>C
NM_000348.3:c.281+317T>C	NP_000339.2:n.281+317T>C
XM_011533068.1:c.281+317T>C	XP_011531370.1:n.281+317T>C
XM_011533070.1:c.27-46537T>C	XP_011531372.1:n.27-46537T>C
XM_011533071.1:c.27-46537T>C	XP_011531373.1:n.27-46537T>C
XM_011533072.1:c.27-46537T>C	XP_011531374.1:n.27-46537T>C
XM_011533072.2:c.27-46537T>C	XP_011531374.1:n.27-46537T>C
NM_000348.4:c.281+317T>C MANE Select	NP_000339.2:n.281+317T>C