Canonical Allele Identifier: CA2695223626
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436644del , CM000678.2:g.67436644del GRCh38
NC_000016.9:g.67470547del , CM000678.1:g.67470547del GRCh37
NC_000016.8:g.66028048del NCBI36
NG_011482.1:g.49544del
NG_016549.1:g.10512del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.859del MANE Select ENSP00000316786.5:p.Leu287CysfsTer?
ENST00000326152.5:c.859del ENSP00000316786.5:p.Leu287CysfsTer?
NM_000196.3:c.859del NP_000187.3:p.Leu287CysfsTer?
NM_000196.4:c.859del MANE Select NP_000187.3:p.Leu287CysfsTer?