Canonical Allele Identifier: CA396278929
Gene: HSD11B2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435998G>A , CM000678.2:g.67435998G>A GRCh38
NC_000016.9:g.67469901G>A , CM000678.1:g.67469901G>A GRCh37
NC_000016.8:g.66027402G>A NCBI36
NG_016549.1:g.9866G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.520G>A MANE Select ENSP00000316786.5:p.Val174Ile
ENST00000326152.5:c.520G>A ENSP00000316786.5:p.Val174Ile
ENST00000566606.1:c.498G>A ENSP00000473429.1:n.498G>A
ENST00000567684.2:n.383G>A
NM_000196.3:c.520G>A NP_000187.3:p.Val174Ile
NM_000196.4:c.520G>A MANE Select NP_000187.3:p.Val174Ile