Canonical Allele Identifier: CA346598497

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 2016323
• ClinVar RCV Id: RCV002843842
• gnomAD v4: 2-31533645-C-T
• MyVariant Identifiers: chr2:g.31758715C>T (hg19) ; chr2:g.31533645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533645C>T , CM000664.2:g.31533645C>T	GRCh38
NC_000002.11:g.31758715C>T , CM000664.1:g.31758715C>T	GRCh37
NC_000002.10:g.31612219C>T	NCBI36
NG_008365.1:g.52327G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.403G>A MANE Select	ENSP00000477587.1:p.Glu135Lys
ENST00000622030.1:c.403G>A	ENSP00000477587.1:p.Glu135Lys
NM_000348.3:c.403G>A	NP_000339.2:p.Glu135Lys
XM_011533068.1:c.403G>A	XP_011531370.1:p.Glu135Lys
XM_011533069.1:c.181G>A	XP_011531371.1:p.Glu61Lys
XM_011533070.1:c.148G>A	XP_011531372.1:p.Glu50Lys
XM_011533071.1:c.148G>A	XP_011531373.1:p.Glu50Lys
XM_011533072.1:c.148G>A	XP_011531374.1:p.Glu50Lys
XM_011533069.2:c.181G>A	XP_011531371.1:p.Glu61Lys
XM_011533072.2:c.148G>A	XP_011531374.1:p.Glu50Lys
NM_000348.4:c.403G>A MANE Select	NP_000339.2:p.Glu135Lys