Canonical Allele Identifier: CA2633777521
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67437059-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437059G>C , CM000678.2:g.67437059G>C GRCh38
NC_000016.9:g.67470962G>C , CM000678.1:g.67470962G>C GRCh37
NC_000016.8:g.66028463G>C NCBI36
NG_011482.1:g.49128C>G
NG_016549.1:g.10927G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*56G>C MANE Select ENSP00000316786.5:n.*56G>C
ENST00000326152.5:c.*56G>C ENSP00000316786.5:n.*56G>C
NM_000196.3:c.*56G>C NP_000187.3:n.*56G>C
NM_000196.4:c.*56G>C MANE Select NP_000187.3:n.*56G>C
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