Canonical Allele Identifier: CA396282230
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67470608T>G (hg19) chr16:g.67436705T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436705T>G , CM000678.2:g.67436705T>G GRCh38
NC_000016.9:g.67470608T>G , CM000678.1:g.67470608T>G GRCh37
NC_000016.8:g.66028109T>G NCBI36
NG_011482.1:g.49482A>C
NG_016549.1:g.10573T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.920T>G MANE Select ENSP00000316786.5:p.Phe307Cys
ENST00000326152.5:c.920T>G ENSP00000316786.5:p.Phe307Cys
NM_000196.3:c.920T>G NP_000187.3:p.Phe307Cys
NM_000196.4:c.920T>G MANE Select NP_000187.3:p.Phe307Cys
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