Canonical Allele Identifier: CA396281754
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436618A>C , CM000678.2:g.67436618A>C GRCh38
NC_000016.9:g.67470521A>C , CM000678.1:g.67470521A>C GRCh37
NC_000016.8:g.66028022A>C NCBI36
NG_011482.1:g.49569T>G
NG_016549.1:g.10486A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.833A>C MANE Select ENSP00000316786.5:p.Lys278Thr
ENST00000326152.5:c.833A>C ENSP00000316786.5:p.Lys278Thr
NM_000196.3:c.833A>C NP_000187.3:p.Lys278Thr
NM_000196.4:c.833A>C MANE Select NP_000187.3:p.Lys278Thr