Canonical Allele Identifier: CA346598751

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580618A>G , CM000664.2:g.31580618A>G	GRCh38
NC_000002.11:g.31805688A>G , CM000664.1:g.31805688A>G	GRCh37
NC_000002.10:g.31659192A>G	NCBI36
NG_008365.1:g.5354T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000348.4:c.281+2T>C MANE Select	NP_000339.2:n.281+2T>C
ENST00000622030.2:c.281+2T>C MANE Select	ENSP00000477587.1:n.281+2T>C
NM_000348.3:c.281+2T>C	NP_000339.2:n.281+2T>C
ENST00000622030.1:c.281+2T>C	ENSP00000477587.1:n.281+2T>C
XM_011533068.1:c.281+2T>C	XP_011531370.1:n.281+2T>C
XM_011533070.1:c.27-46852T>C	XP_011531372.1:n.27-46852T>C
XM_011533071.1:c.27-46852T>C	XP_011531373.1:n.27-46852T>C
XM_011533072.1:c.27-46852T>C	XP_011531374.1:n.27-46852T>C
XM_011533072.2:c.27-46852T>C	XP_011531374.1:n.27-46852T>C