Canonical Allele Identifier: CA2576029232
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436703_67436705del , CM000678.2:g.67436703_67436705del GRCh38
NC_000016.9:g.67470606_67470608del , CM000678.1:g.67470606_67470608del GRCh37
NC_000016.8:g.66028107_66028109del NCBI36
NG_011482.1:g.49482_49484del
NG_016549.1:g.10571_10573del

Transcript Alleles

HGVS Amino-acid change
ENST00000326152.6:c.918_920del MANE Select ENSP00000316786.5:p.Gln306_Phe307delinsHis
ENST00000326152.5:c.918_920del ENSP00000316786.5:p.Gln306_Phe307delinsHis
NM_000196.3:c.918_920del NP_000187.3:p.Gln306_Phe307delinsHis
NM_000196.4:c.918_920del MANE Select NP_000187.3:p.Gln306_Phe307delinsHis