Canonical Allele Identifier: CA346598567

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533680-C-A
• MyVariant Identifiers: chr2:g.31758750C>A (hg19) ; chr2:g.31533680C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533680C>A , CM000664.2:g.31533680C>A	GRCh38
NC_000002.11:g.31758750C>A , CM000664.1:g.31758750C>A	GRCh37
NC_000002.10:g.31612254C>A	NCBI36
NG_008365.1:g.52292G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.368G>T MANE Select	ENSP00000477587.1:p.Gly123Val
ENST00000622030.1:c.368G>T	ENSP00000477587.1:p.Gly123Val
NM_000348.3:c.368G>T	NP_000339.2:p.Gly123Val
XM_011533068.1:c.368G>T	XP_011531370.1:p.Gly123Val
XM_011533069.1:c.146G>T	XP_011531371.1:p.Gly49Val
XM_011533070.1:c.113G>T	XP_011531372.1:p.Gly38Val
XM_011533071.1:c.113G>T	XP_011531373.1:p.Gly38Val
XM_011533072.1:c.113G>T	XP_011531374.1:p.Gly38Val
XM_011533069.2:c.146G>T	XP_011531371.1:p.Gly49Val
XM_011533072.2:c.113G>T	XP_011531374.1:p.Gly38Val
NM_000348.4:c.368G>T MANE Select	NP_000339.2:p.Gly123Val