Canonical Allele Identifier: CA396284844
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs2040980645

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436908G>A , CM000678.2:g.67436908G>A GRCh38
NC_000016.9:g.67470811G>A , CM000678.1:g.67470811G>A GRCh37
NC_000016.8:g.66028312G>A NCBI36
NG_011482.1:g.49279C>T
NG_016549.1:g.10776G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1123G>A MANE Select ENSP00000316786.5:p.Ala375Thr
ENST00000326152.5:c.1123G>A ENSP00000316786.5:p.Ala375Thr
NM_000196.3:c.1123G>A NP_000187.3:p.Ala375Thr
NM_000196.4:c.1123G>A MANE Select NP_000187.3:p.Ala375Thr