Canonical Allele Identifier: CA396282376
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436722C>A , CM000678.2:g.67436722C>A GRCh38
NC_000016.9:g.67470625C>A , CM000678.1:g.67470625C>A GRCh37
NC_000016.8:g.66028126C>A NCBI36
NG_011482.1:g.49465G>T
NG_016549.1:g.10590C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.937C>A MANE Select ENSP00000316786.5:p.Leu313Met
ENST00000326152.5:c.937C>A ENSP00000316786.5:p.Leu313Met
NM_000196.3:c.937C>A NP_000187.3:p.Leu313Met
NM_000196.4:c.937C>A MANE Select NP_000187.3:p.Leu313Met