Canonical Allele Identifier: CA2229311018
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67437020_67437021delinsGC , CM000678.2:g.67437020_67437021delinsGC GRCh38
NC_000016.9:g.67470923_67470924delinsGC , CM000678.1:g.67470923_67470924delinsGC GRCh37
NC_000016.8:g.66028424_66028425delinsGC NCBI36
NG_011482.1:g.49166_49167delinsGC
NG_016549.1:g.10888_10889delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.*17_*18delinsGC MANE Select ENSP00000316786.5:n.*17_*18delinsGC
ENST00000326152.5:c.*17_*18delinsGC ENSP00000316786.5:n.*17_*18delinsGC
NM_000196.3:c.*17_*18delinsGC NP_000187.3:n.*17_*18delinsGC
NM_000196.4:c.*17_*18delinsGC MANE Select NP_000187.3:n.*17_*18delinsGC