Canonical Allele Identifier: CA2807429820
Gene: HSD11B2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437098T>G , CM000678.2:g.67437098T>G GRCh38
NC_000016.9:g.67471001T>G , CM000678.1:g.67471001T>G GRCh37
NC_000016.8:g.66028502T>G NCBI36
NG_011482.1:g.49089A>C
NG_016549.1:g.10966T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*95T>G MANE Select ENSP00000316786.5:n.*95T>G
ENST00000326152.5:c.*95T>G ENSP00000316786.5:n.*95T>G
NM_000196.3:c.*95T>G NP_000187.3:n.*95T>G
NM_000196.4:c.*95T>G MANE Select NP_000187.3:n.*95T>G
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