Canonical Allele Identifier: CA8110573
Gene: HSD11B2 HGNC NCBI

Linked Data

dbSNP Id: rs748083668
ExAC: 16:67469454 GACCC / G
gnomAD v2: 16-67469454-GACCC-G
gnomAD v4: 16-67435551-GACCC-G
MyVariant Identifiers: chr16:g.67469455_67469458del (hg19) chr16:g.67435552_67435555del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67435552_67435555del , CM000678.2:g.67435552_67435555del GRCh38
NC_000016.9:g.67469455_67469458del , CM000678.1:g.67469455_67469458del GRCh37
NC_000016.8:g.66026956_66026959del NCBI36
NG_016549.1:g.9420_9423del

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.266-76_266-73del MANE Select ENSP00000316786.5:n.266-76_266-73del
ENST00000326152.5:c.266-76_266-73del ENSP00000316786.5:n.266-76_266-73del
ENST00000566606.1:c.168_171del ENSP00000473429.1:p.Arg56SerfsTer10
ENST00000567684.2:n.129-76_129-73del
NM_000196.3:c.266-76_266-73del NP_000187.3:n.266-76_266-73del
NM_000196.4:c.266-76_266-73del MANE Select NP_000187.3:n.266-76_266-73del
Search 100 bp 5'
Search 100 bp 3'