Canonical Allele Identifier: CA1599881

Gene: SRD5A2

Linked Data

• ClinVar Variation Id: 492905
• ClinVar RCV Id: RCV000582995
• dbSNP Id: rs756853742
• ExAC: 2:31754477 C / T
• gnomAD v2: 2-31754477-C-T
• gnomAD v4: 2-31529407-C-T
• MyVariant Identifiers: chr2:g.31754477C>T (hg19) ; chr2:g.31529407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529407C>T , CM000664.2:g.31529407C>T	GRCh38
NC_000002.11:g.31754477C>T , CM000664.1:g.31754477C>T	GRCh37
NC_000002.10:g.31607981C>T	NCBI36
NG_008365.1:g.56565G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.598G>A MANE Select	ENSP00000477587.1:p.Glu200Lys
ENST00000622030.1:c.598G>A	ENSP00000477587.1:p.Glu200Lys
NM_000348.3:c.598G>A	NP_000339.2:p.Glu200Lys
XM_011533069.1:c.376G>A	XP_011531371.1:p.Glu126Lys
XM_011533070.1:c.343G>A	XP_011531372.1:p.Glu115Lys
XM_011533071.1:c.343G>A	XP_011531373.1:p.Glu115Lys
XM_011533072.1:c.343G>A	XP_011531374.1:p.Glu115Lys
XM_011533069.2:c.376G>A	XP_011531371.1:p.Glu126Lys
XM_011533072.2:c.343G>A	XP_011531374.1:p.Glu115Lys
NM_000348.4:c.598G>A MANE Select	NP_000339.2:p.Glu200Lys