Canonical Allele Identifier: CA8110847
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs765690117
ExAC: 16:67470923 GC / G
gnomAD v2: 16-67470923-GC-G
gnomAD v4: 16-67437020-GC-G
MyVariant Identifiers: chr16:g.67470924del (hg19) chr16:g.67437021del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437023del , CM000678.2:g.67437023del GRCh38
NC_000016.9:g.67470926del , CM000678.1:g.67470926del GRCh37
NC_000016.8:g.66028427del NCBI36
NG_011482.1:g.49166del
NG_016549.1:g.10891del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*20del MANE Select ENSP00000316786.5:n.*20del
ENST00000326152.5:c.*20del ENSP00000316786.5:n.*20del
NM_000196.3:c.*20del NP_000187.3:n.*20del
NM_000196.4:c.*20del MANE Select NP_000187.3:n.*20del
Search 100 bp 5'
Search 100 bp 3'