Canonical Allele Identifier: CA121885
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 12098
ClinVar RCV Id: RCV000012879
dbSNP Id: rs28934594

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436620C>T , CM000678.2:g.67436620C>T GRCh38
NC_000016.9:g.67470523C>T , CM000678.1:g.67470523C>T GRCh37
NC_000016.8:g.66028024C>T NCBI36
NG_011482.1:g.49567G>A
NG_016549.1:g.10488C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.835C>T MANE Select ENSP00000316786.5:p.Arg279Cys
ENST00000326152.5:c.835C>T ENSP00000316786.5:p.Arg279Cys
NM_000196.3:c.835C>T NP_000187.3:p.Arg279Cys
NM_000196.4:c.835C>T MANE Select NP_000187.3:p.Arg279Cys