Canonical Allele Identifier: CA396282824
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436777C>A , CM000678.2:g.67436777C>A GRCh38
NC_000016.9:g.67470680C>A , CM000678.1:g.67470680C>A GRCh37
NC_000016.8:g.66028181C>A NCBI36
NG_011482.1:g.49410G>T
NG_016549.1:g.10645C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.992C>A MANE Select ENSP00000316786.5:p.Ala331Glu
ENST00000326152.5:c.992C>A ENSP00000316786.5:p.Ala331Glu
NM_000196.3:c.992C>A NP_000187.3:p.Ala331Glu
NM_000196.4:c.992C>A MANE Select NP_000187.3:p.Ala331Glu