Canonical Allele Identifier: CA767779380

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1349542366
• gnomAD v3: 2-31567469-T-TATATAC
• gnomAD v4: 2-31567469-T-TATATAC
• MyVariant Identifiers: chr2:g.31792539_31792540insATATAC (hg19) ; chr2:g.31567469_31567470insATATAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31567473_31567474insACATAT , CM000664.2:g.31567473_31567474insACATAT	GRCh38
NC_000002.11:g.31792543_31792544insACATAT , CM000664.1:g.31792543_31792544insACATAT	GRCh37
NC_000002.10:g.31646047_31646048insACATAT	NCBI36
NG_008365.1:g.18502_18503insGTATAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+13150_281+13151insGTATAT MANE Select	ENSP00000477587.1:n.281+13150_281+13151insGTATAT
ENST00000622030.1:c.281+13150_281+13151insGTATAT	ENSP00000477587.1:n.281+13150_281+13151insGTATAT
NM_000348.3:c.281+13150_281+13151insGTATAT	NP_000339.2:n.281+13150_281+13151insGTATAT
XM_011533068.1:c.281+13150_281+13151insGTATAT	XP_011531370.1:n.281+13150_281+13151insGTATAT
XM_011533070.1:c.27-33704_27-33703insGTATAT	XP_011531372.1:n.27-33704_27-33703insGTATAT
XM_011533071.1:c.27-33704_27-33703insGTATAT	XP_011531373.1:n.27-33704_27-33703insGTATAT
XM_011533072.1:c.27-33704_27-33703insGTATAT	XP_011531374.1:n.27-33704_27-33703insGTATAT
XM_011533072.2:c.27-33704_27-33703insGTATAT	XP_011531374.1:n.27-33704_27-33703insGTATAT
NM_000348.4:c.281+13150_281+13151insGTATAT MANE Select	NP_000339.2:n.281+13150_281+13151insGTATAT