Canonical Allele Identifier: CA2633777552
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67437093-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437093C>A , CM000678.2:g.67437093C>A GRCh38
NC_000016.9:g.67470996C>A , CM000678.1:g.67470996C>A GRCh37
NC_000016.8:g.66028497C>A NCBI36
NG_011482.1:g.49094G>T
NG_016549.1:g.10961C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*90C>A MANE Select ENSP00000316786.5:n.*90C>A
ENST00000326152.5:c.*90C>A ENSP00000316786.5:n.*90C>A
NM_000196.3:c.*90C>A NP_000187.3:n.*90C>A
NM_000196.4:c.*90C>A MANE Select NP_000187.3:n.*90C>A
Search 100 bp 5'
Search 100 bp 3'