Canonical Allele Identifier: CA396280269
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436275G>A , CM000678.2:g.67436275G>A GRCh38
NC_000016.9:g.67470178G>A , CM000678.1:g.67470178G>A GRCh37
NC_000016.8:g.66027679G>A NCBI36
NG_011482.1:g.49912C>T
NG_016549.1:g.10143G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.691G>A MANE Select ENSP00000316786.5:p.Ala231Thr
ENST00000326152.5:c.691G>A ENSP00000316786.5:p.Ala231Thr
NM_000196.3:c.691G>A NP_000187.3:p.Ala231Thr
NM_000196.4:c.691G>A MANE Select NP_000187.3:p.Ala231Thr