Canonical Allele Identifier: CA2633777528
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67437063-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437063C>T , CM000678.2:g.67437063C>T GRCh38
NC_000016.9:g.67470966C>T , CM000678.1:g.67470966C>T GRCh37
NC_000016.8:g.66028467C>T NCBI36
NG_011482.1:g.49124G>A
NG_016549.1:g.10931C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*60C>T MANE Select ENSP00000316786.5:n.*60C>T
ENST00000326152.5:c.*60C>T ENSP00000316786.5:n.*60C>T
NM_000196.3:c.*60C>T NP_000187.3:n.*60C>T
NM_000196.4:c.*60C>T MANE Select NP_000187.3:n.*60C>T
Search 100 bp 5'
Search 100 bp 3'