Canonical Allele Identifier: CA121882
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12096
dbSNP Id: rs28934592

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436101G>A , CM000678.2:g.67436101G>A GRCh38
NC_000016.9:g.67470004G>A , CM000678.1:g.67470004G>A GRCh37
NC_000016.8:g.66027505G>A NCBI36
NG_011482.1:g.50086C>T
NG_016549.1:g.9969G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.623G>A MANE Select ENSP00000316786.5:p.Arg208His
ENST00000326152.5:c.623G>A ENSP00000316786.5:p.Arg208His
ENST00000566606.1:c.601G>A ENSP00000473429.1:n.601G>A
ENST00000567684.2:n.486G>A
NM_000196.3:c.623G>A NP_000187.3:p.Arg208His
NM_000196.4:c.623G>A MANE Select NP_000187.3:p.Arg208His