Canonical Allele Identifier: CA2633779122
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67435992-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435994del , CM000678.2:g.67435994del GRCh38
NC_000016.9:g.67469897del , CM000678.1:g.67469897del GRCh37
NC_000016.8:g.66027398del NCBI36
NG_016549.1:g.9862del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.516del MANE Select ENSP00000316786.5:p.Val173Ter
ENST00000326152.5:c.516del ENSP00000316786.5:p.Val173Ter
ENST00000566606.1:c.494del ENSP00000473429.1:n.494del
ENST00000567684.2:n.379del
NM_000196.3:c.516del NP_000187.3:p.Val173Ter
NM_000196.4:c.516del MANE Select NP_000187.3:p.Val173Ter
Search 100 bp 5'
Search 100 bp 3'