Canonical Allele Identifier: CA121879
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12093
ClinVar RCV Id: RCV000012874
dbSNP Id: rs121917780

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436100C>T , CM000678.2:g.67436100C>T GRCh38
NC_000016.9:g.67470003C>T , CM000678.1:g.67470003C>T GRCh37
NC_000016.8:g.66027504C>T NCBI36
NG_011482.1:g.50087G>A
NG_016549.1:g.9968C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.622C>T MANE Select ENSP00000316786.5:p.Arg208Cys
ENST00000326152.5:c.622C>T ENSP00000316786.5:p.Arg208Cys
ENST00000566606.1:c.600C>T ENSP00000473429.1:n.600C>T
ENST00000567684.2:n.485C>T
NM_000196.3:c.622C>T NP_000187.3:p.Arg208Cys
NM_000196.4:c.622C>T MANE Select NP_000187.3:p.Arg208Cys