Canonical Allele Identifier: CA8110680
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 586030
ClinVar RCV Id: RCV000711980 RCV003918148
dbSNP Id: rs72650121
ExAC: 16:67470052 GC / G
gnomAD v2: 16-67470052-GC-G
gnomAD v3: 16-67436149-GC-G
gnomAD v4: 16-67436149-GC-G
MyVariant Identifiers: chr16:g.67470061del (hg19) chr16:g.67470053del (hg19) chr16:g.67436158del (hg38) chr16:g.67436150del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436158del , CM000678.2:g.67436158del GRCh38
NC_000016.9:g.67470061del , CM000678.1:g.67470061del GRCh37
NC_000016.8:g.66027562del NCBI36
NG_011482.1:g.50037del
NG_016549.1:g.10026del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.664+16del MANE Select ENSP00000316786.5:n.664+16del
ENST00000326152.5:c.664+16del ENSP00000316786.5:n.664+16del
ENST00000567684.2:n.527+16del
NM_000196.3:c.664+16del NP_000187.3:n.664+16del
NM_000196.4:c.664+16del MANE Select NP_000187.3:n.664+16del
Search 100 bp 5'
Search 100 bp 3'