Canonical Allele Identifier: CA978416330
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs2040968548
gnomAD v3: 16-67436089-TG-T
gnomAD v4: 16-67436089-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436090del , CM000678.2:g.67436090del GRCh38
NC_000016.9:g.67469993del , CM000678.1:g.67469993del GRCh37
NC_000016.8:g.66027494del NCBI36
NG_011482.1:g.50097del
NG_016549.1:g.9958del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.612del MANE Select ENSP00000316786.5:p.Leu206CysfsTer10
ENST00000326152.5:c.612del ENSP00000316786.5:p.Leu206CysfsTer10
ENST00000566606.1:c.590del ENSP00000473429.1:n.590del
ENST00000567684.2:n.475del
NM_000196.3:c.612del NP_000187.3:p.Leu206CysfsTer10
NM_000196.4:c.612del MANE Select NP_000187.3:p.Leu206CysfsTer10
Search 100 bp 5'
Search 100 bp 3'