Canonical Allele Identifier: CA2571104389

Gene: HSD11B2

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67436626_67436627insGGC , CM000678.2:g.67436626_67436627insGGC	GRCh38
NC_000016.9:g.67470529_67470530insGGC , CM000678.1:g.67470529_67470530insGGC	GRCh37
NC_000016.8:g.66028030_66028031insGGC	NCBI36
NG_011482.1:g.49562_49563insCGC
NG_016549.1:g.10494_10495insGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326152.6:c.841_842insGGC MANE Select	ENSP00000316786.5:p.Lys280_Gln281insArg
ENST00000326152.5:c.841_842insGGC	ENSP00000316786.5:p.Lys280_Gln281insArg
NM_000196.3:c.841_842insGGC	NP_000187.3:p.Lys280_Gln281insArg
NM_000196.4:c.841_842insGGC MANE Select	NP_000187.3:p.Lys280_Gln281insArg