Canonical Allele Identifier: CA396284900
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436916G>C , CM000678.2:g.67436916G>C GRCh38
NC_000016.9:g.67470819G>C , CM000678.1:g.67470819G>C GRCh37
NC_000016.8:g.66028320G>C NCBI36
NG_011482.1:g.49271C>G
NG_016549.1:g.10784G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.1131G>C MANE Select ENSP00000316786.5:p.Gln377His
ENST00000326152.5:c.1131G>C ENSP00000316786.5:p.Gln377His
NM_000196.3:c.1131G>C NP_000187.3:p.Gln377His
NM_000196.4:c.1131G>C MANE Select NP_000187.3:p.Gln377His