Canonical Allele Identifier: CA396280792
Gene: HSD11B2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67470231T>A (hg19) chr16:g.67436328T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436328T>A , CM000678.2:g.67436328T>A GRCh38
NC_000016.9:g.67470231T>A , CM000678.1:g.67470231T>A GRCh37
NC_000016.8:g.66027732T>A NCBI36
NG_011482.1:g.49859A>T
NG_016549.1:g.10196T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.744T>A MANE Select ENSP00000316786.5:p.Cys248Ter
ENST00000326152.5:c.744T>A ENSP00000316786.5:p.Cys248Ter
NM_000196.3:c.744T>A NP_000187.3:p.Cys248Ter
NM_000196.4:c.744T>A MANE Select NP_000187.3:p.Cys248Ter
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