Canonical Allele Identifier: CA45142046

Gene: SRD5A2

Linked Data

• dbSNP Id: rs868416832
• gnomAD v4: 2-31580638-C-A
• MyVariant Identifiers: chr2:g.31805708C>A (hg19) ; chr2:g.31580638C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31580638C>A , CM000664.2:g.31580638C>A	GRCh38
NC_000002.11:g.31805708C>A , CM000664.1:g.31805708C>A	GRCh37
NC_000002.10:g.31659212C>A	NCBI36
NG_008365.1:g.5334G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.263G>T MANE Select	ENSP00000477587.1:p.Cys88Phe
ENST00000622030.1:c.263G>T	ENSP00000477587.1:p.Cys88Phe
NM_000348.3:c.263G>T	NP_000339.2:p.Cys88Phe
XM_011533068.1:c.263G>T	XP_011531370.1:p.Cys88Phe
XM_011533070.1:c.27-46872G>T	XP_011531372.1:n.27-46872G>T
XM_011533071.1:c.27-46872G>T	XP_011531373.1:n.27-46872G>T
XM_011533072.1:c.27-46872G>T	XP_011531374.1:n.27-46872G>T
XM_011533072.2:c.27-46872G>T	XP_011531374.1:n.27-46872G>T
NM_000348.4:c.263G>T MANE Select	NP_000339.2:p.Cys88Phe