Canonical Allele Identifier: CA1599886

Gene: SRD5A2

Linked Data

• dbSNP Id: rs778525326
• ExAC: 2:31754487 AC / A
• gnomAD v2: 2-31754487-AC-A
• gnomAD v4: 2-31529417-AC-A
• MyVariant Identifiers: chr2:g.31754488del (hg19) ; chr2:g.31529418del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31529419del , CM000664.2:g.31529419del	GRCh38
NC_000002.11:g.31754489del , CM000664.1:g.31754489del	GRCh37
NC_000002.10:g.31607993del	NCBI36
NG_008365.1:g.56554del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.587del MANE Select	ENSP00000477587.1:p.Gly196ValfsTer?
ENST00000622030.1:c.587del	ENSP00000477587.1:p.Gly196ValfsTer?
NM_000348.3:c.587del	NP_000339.2:p.Gly196ValfsTer?
XM_011533069.1:c.365del	XP_011531371.1:p.Gly122ValfsTer?
XM_011533070.1:c.332del	XP_011531372.1:p.Gly111ValfsTer?
XM_011533071.1:c.332del	XP_011531373.1:p.Gly111ValfsTer?
XM_011533072.1:c.332del	XP_011531374.1:p.Gly111ValfsTer?
XM_011533069.2:c.365del	XP_011531371.1:p.Gly122ValfsTer?
XM_011533072.2:c.332del	XP_011531374.1:p.Gly111ValfsTer?
NM_000348.4:c.587del MANE Select	NP_000339.2:p.Gly196ValfsTer?