Canonical Allele Identifier: CA2633777269
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67436896-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436897del , CM000678.2:g.67436897del GRCh38
NC_000016.9:g.67470800del , CM000678.1:g.67470800del GRCh37
NC_000016.8:g.66028301del NCBI36
NG_011482.1:g.49290del
NG_016549.1:g.10765del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1112del MANE Select ENSP00000316786.5:p.Cys371PhefsTer25
ENST00000326152.5:c.1112del ENSP00000316786.5:p.Cys371PhefsTer25
NM_000196.3:c.1112del NP_000187.3:p.Cys371PhefsTer25
NM_000196.4:c.1112del MANE Select NP_000187.3:p.Cys371PhefsTer25
Search 100 bp 5'
Search 100 bp 3'