Canonical Allele Identifier: CA396281709
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436613G>A , CM000678.2:g.67436613G>A GRCh38
NC_000016.9:g.67470516G>A , CM000678.1:g.67470516G>A GRCh37
NC_000016.8:g.66028017G>A NCBI36
NG_011482.1:g.49574C>T
NG_016549.1:g.10481G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.828G>A MANE Select ENSP00000316786.5:p.Trp276Ter
ENST00000326152.5:c.828G>A ENSP00000316786.5:p.Trp276Ter
NM_000196.3:c.828G>A NP_000187.3:p.Trp276Ter
NM_000196.4:c.828G>A MANE Select NP_000187.3:p.Trp276Ter