Canonical Allele Identifier: CA2576029243
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437094del , CM000678.2:g.67437094del GRCh38
NC_000016.9:g.67470997del , CM000678.1:g.67470997del GRCh37
NC_000016.8:g.66028498del NCBI36
NG_011482.1:g.49097del
NG_016549.1:g.10962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*91del MANE Select ENSP00000316786.5:n.*91del
ENST00000326152.5:c.*91del ENSP00000316786.5:n.*91del
NM_000196.3:c.*91del NP_000187.3:n.*91del
NM_000196.4:c.*91del MANE Select NP_000187.3:n.*91del