Canonical Allele Identifier: CA1028969043

Gene: SRD5A2

Linked Data

• dbSNP Id: rs1666756839
• gnomAD v3: 2-31567463-T-TAC
• gnomAD v4: 2-31567463-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31567464_31567465insCA , CM000664.2:g.31567464_31567465insCA	GRCh38
NC_000002.11:g.31792534_31792535insCA , CM000664.1:g.31792534_31792535insCA	GRCh37
NC_000002.10:g.31646038_31646039insCA	NCBI36
NG_008365.1:g.18508_18509insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+13156_281+13157insGT MANE Select	ENSP00000477587.1:n.281+13156_281+13157insGT
ENST00000622030.1:c.281+13156_281+13157insGT	ENSP00000477587.1:n.281+13156_281+13157insGT
NM_000348.3:c.281+13156_281+13157insGT	NP_000339.2:n.281+13156_281+13157insGT
XM_011533068.1:c.281+13156_281+13157insGT	XP_011531370.1:n.281+13156_281+13157insGT
XM_011533070.1:c.27-33698_27-33697insGT	XP_011531372.1:n.27-33698_27-33697insGT
XM_011533071.1:c.27-33698_27-33697insGT	XP_011531373.1:n.27-33698_27-33697insGT
XM_011533072.1:c.27-33698_27-33697insGT	XP_011531374.1:n.27-33698_27-33697insGT
XM_011533072.2:c.27-33698_27-33697insGT	XP_011531374.1:n.27-33698_27-33697insGT
NM_000348.4:c.281+13156_281+13157insGT MANE Select	NP_000339.2:n.281+13156_281+13157insGT