Canonical Allele Identifier: CA8110660
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2137838
ClinVar RCV Id: RCV003041262
dbSNP Id: rs768507002

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436034C>T , CM000678.2:g.67436034C>T GRCh38
NC_000016.9:g.67469937C>T , CM000678.1:g.67469937C>T GRCh37
NC_000016.8:g.66027438C>T NCBI36
NG_011482.1:g.50153G>A
NG_016549.1:g.9902C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.556C>T MANE Select ENSP00000316786.5:p.Arg186Cys
ENST00000326152.5:c.556C>T ENSP00000316786.5:p.Arg186Cys
ENST00000566606.1:c.534C>T ENSP00000473429.1:n.534C>T
ENST00000567684.2:n.419C>T
NM_000196.3:c.556C>T NP_000187.3:p.Arg186Cys
NM_000196.4:c.556C>T MANE Select NP_000187.3:p.Arg186Cys