Canonical Allele Identifier: CA2633779203

Gene: HSD11B2

Linked Data

• gnomAD v4: 16-67436075-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436076_67436077del , CM000678.2:g.67436076_67436077del	GRCh38
NC_000016.9:g.67469979_67469980del , CM000678.1:g.67469979_67469980del	GRCh37
NC_000016.8:g.66027480_66027481del	NCBI36
NG_011482.1:g.50110_50111del
NG_016549.1:g.9944_9945del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.598_599del MANE Select	ENSP00000316786.5:p.Thr200GlnfsTer?
ENST00000326152.5:c.598_599del	ENSP00000316786.5:p.Thr200GlnfsTer?
ENST00000566606.1:c.576_577del	ENSP00000473429.1:n.576_577del
ENST00000567684.2:n.461_462del
NM_000196.3:c.598_599del	NP_000187.3:p.Thr200GlnfsTer?
NM_000196.4:c.598_599del MANE Select	NP_000187.3:p.Thr200GlnfsTer?