Canonical Allele Identifier: CA2633780137
Gene: HSD11B2 HGNC NCBI

Linked Data

gnomAD v4: 16-67436533-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436533A>G , CM000678.2:g.67436533A>G GRCh38
NC_000016.9:g.67470436A>G , CM000678.1:g.67470436A>G GRCh37
NC_000016.8:g.66027937A>G NCBI36
NG_011482.1:g.49654T>C
NG_016549.1:g.10401A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.803-55A>G MANE Select ENSP00000316786.5:n.803-55A>G
ENST00000326152.5:c.803-55A>G ENSP00000316786.5:n.803-55A>G
NM_000196.3:c.803-55A>G NP_000187.3:n.803-55A>G
NM_000196.4:c.803-55A>G MANE Select NP_000187.3:n.803-55A>G
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