Canonical Allele Identifier: CA8110839
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs762326376
ExAC: 16:67470907 GC / G
gnomAD v2: 16-67470907-GC-G
gnomAD v4: 16-67437004-GC-G
MyVariant Identifiers: chr16:g.67470908del (hg19) chr16:g.67437005del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437006del , CM000678.2:g.67437006del GRCh38
NC_000016.9:g.67470909del , CM000678.1:g.67470909del GRCh37
NC_000016.8:g.66028410del NCBI36
NG_011482.1:g.49182del
NG_016549.1:g.10874del

Transcript Alleles

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