Canonical Allele Identifier: CA396282165
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436691C>A , CM000678.2:g.67436691C>A GRCh38
NC_000016.9:g.67470594C>A , CM000678.1:g.67470594C>A GRCh37
NC_000016.8:g.66028095C>A NCBI36
NG_011482.1:g.49496G>T
NG_016549.1:g.10559C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.906C>A MANE Select ENSP00000316786.5:p.His302Gln
ENST00000326152.5:c.906C>A ENSP00000316786.5:p.His302Gln
NM_000196.3:c.906C>A NP_000187.3:p.His302Gln
NM_000196.4:c.906C>A MANE Select NP_000187.3:p.His302Gln