Canonical Allele Identifier: CA2633777334
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67436935-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436939del , CM000678.2:g.67436939del GRCh38
NC_000016.9:g.67470842del , CM000678.1:g.67470842del GRCh37
NC_000016.8:g.66028343del NCBI36
NG_011482.1:g.49251del
NG_016549.1:g.10807del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1154del MANE Select ENSP00000316786.5:p.Pro385HisfsTer11
ENST00000326152.5:c.1154del ENSP00000316786.5:p.Pro385HisfsTer11
NM_000196.3:c.1154del NP_000187.3:p.Pro385HisfsTer11
NM_000196.4:c.1154del MANE Select NP_000187.3:p.Pro385HisfsTer11
Search 100 bp 5'
Search 100 bp 3'