Canonical Allele Identifier: CA2229310511
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436711_67436721delinsACTCGCTACGC , CM000678.2:g.67436711_67436721delinsACTCGCTACGC GRCh38
NC_000016.9:g.67470614_67470624delinsACTCGCTACGC , CM000678.1:g.67470614_67470624delinsACTCGCTACGC GRCh37
NC_000016.8:g.66028115_66028125delinsACTCGCTACGC NCBI36
NG_011482.1:g.49466_49476delinsGCGTAGCGAGT
NG_016549.1:g.10579_10589delinsACTCGCTACGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.926_936delinsACTCGCTACGC MANE Select ENSP00000316786.5:p.His309=
ENST00000326152.5:c.926_936delinsACTCGCTACGC ENSP00000316786.5:p.His309=
NM_000196.3:c.926_936delinsACTCGCTACGC NP_000187.3:p.His309=
NM_000196.4:c.926_936delinsACTCGCTACGC MANE Select NP_000187.3:p.His309=