Canonical Allele Identifier: CA2229310868

Gene: HSD11B2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436925_67436926delinsGC , CM000678.2:g.67436925_67436926delinsGC	GRCh38
NC_000016.9:g.67470828_67470829delinsGC , CM000678.1:g.67470828_67470829delinsGC	GRCh37
NC_000016.8:g.66028329_66028330delinsGC	NCBI36
NG_011482.1:g.49261_49262delinsGC
NG_016549.1:g.10793_10794delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.1140_1141delinsGC MANE Select	ENSP00000316786.5:p.Gln380=
ENST00000326152.5:c.1140_1141delinsGC	ENSP00000316786.5:p.Gln380=
NM_000196.3:c.1140_1141delinsGC	NP_000187.3:p.Gln380=
NM_000196.4:c.1140_1141delinsGC MANE Select	NP_000187.3:p.Gln380=