Canonical Allele Identifier: CA2633779132
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67436021-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436022del , CM000678.2:g.67436022del GRCh38
NC_000016.9:g.67469925del , CM000678.1:g.67469925del GRCh37
NC_000016.8:g.66027426del NCBI36
NG_011482.1:g.50165del
NG_016549.1:g.9890del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.544del MANE Select ENSP00000316786.5:p.Val182TrpfsTer10
ENST00000326152.5:c.544del ENSP00000316786.5:p.Val182TrpfsTer10
ENST00000566606.1:c.522del ENSP00000473429.1:n.522del
ENST00000567684.2:n.407del
NM_000196.3:c.544del NP_000187.3:p.Val182TrpfsTer10
NM_000196.4:c.544del MANE Select NP_000187.3:p.Val182TrpfsTer10
Search 100 bp 5'
Search 100 bp 3'