Canonical Allele Identifier: CA8110617
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 447526
ClinVar RCV Id: RCV000518271 RCV002476043
dbSNP Id: rs13306425
ExAC: 16:67469705 G / A
gnomAD v2: 16-67469705-G-A
gnomAD v3: 16-67435802-G-A
gnomAD v4: 16-67435802-G-A
COSMIC: COSM1254438
MyVariant Identifiers: chr16:g.67469705G>A (hg19) chr16:g.67435802G>A (hg38)
PubMed: PMID:16778331 PMID:20571110
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435802G>A , CM000678.2:g.67435802G>A GRCh38
NC_000016.9:g.67469705G>A , CM000678.1:g.67469705G>A GRCh37
NC_000016.8:g.66027206G>A NCBI36
NG_016549.1:g.9670G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.440G>A MANE Select ENSP00000316786.5:p.Arg147His
ENST00000326152.5:c.440G>A ENSP00000316786.5:p.Arg147His
ENST00000566606.1:c.418G>A ENSP00000473429.1:n.418G>A
ENST00000567684.2:n.303G>A
NM_000196.3:c.440G>A NP_000187.3:p.Arg147His
NM_000196.4:c.440G>A MANE Select NP_000187.3:p.Arg147His
Search 100 bp 5'
Search 100 bp 3'