Canonical Allele Identifier: CA2633779662
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67436411-GTGGGGGTGGGGAATGGGGCTGGGAATGGTCTTATGGGGGCAGGTCAGGTTTGATGAATGGTCATGGTTTTGGT-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436420_67436492del , CM000678.2:g.67436420_67436492del GRCh38
NC_000016.9:g.67470323_67470395del , CM000678.1:g.67470323_67470395del GRCh37
NC_000016.8:g.66027824_66027896del NCBI36
NG_011482.1:g.49703_49775del
NG_016549.1:g.10288_10360del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.802+34_803-96del MANE Select ENSP00000316786.5:n.802+34_803-96del
ENST00000326152.5:c.802+34_803-96del ENSP00000316786.5:n.802+34_803-96del
NM_000196.3:c.802+34_803-96del NP_000187.3:n.802+34_803-96del
NM_000196.4:c.802+34_803-96del MANE Select NP_000187.3:n.802+34_803-96del
Search 100 bp 5'
Search 100 bp 3'