Canonical Allele Identifier: CA8110679
Gene: HSD11B2 HGNC NCBI

Linked Data

ClinVar Variation Id: 723515
ClinVar RCV Id: RCV000897277 RCV002505297
dbSNP Id: rs72650121
ExAC: 16:67470052 G / GC
gnomAD v2: 16-67470052-G-GC
gnomAD v3: 16-67436149-G-GC
gnomAD v4: 16-67436149-G-GC
MyVariant Identifiers: chr16:g.67470053_67470054insC (hg19) chr16:g.67470052_67470053insC (hg19) chr16:g.67436150_67436151insC (hg38) chr16:g.67436149_67436150insC (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

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