Canonical Allele Identifier: CA2633777440

Gene: HSD11B2

Linked Data

• gnomAD v4: 16-67436993-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436995dup , CM000678.2:g.67436995dup	GRCh38
NC_000016.9:g.67470898dup , CM000678.1:g.67470898dup	GRCh37
NC_000016.8:g.66028399dup	NCBI36
NG_011482.1:g.49193dup
NG_016549.1:g.10863dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.1210dup MANE Select	ENSP00000316786.5:p.Ala404GlyfsTer?
ENST00000326152.5:c.1210dup	ENSP00000316786.5:p.Ala404GlyfsTer?
NM_000196.3:c.1210dup	NP_000187.3:p.Ala404GlyfsTer?
NM_000196.4:c.1210dup MANE Select	NP_000187.3:p.Ala404GlyfsTer?