Canonical Allele Identifier: CA2576029158
Gene: HSD11B2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67436095_67436096insTGA , CM000678.2:g.67436095_67436096insTGA GRCh38
NC_000016.9:g.67469998_67469999insTGA , CM000678.1:g.67469998_67469999insTGA GRCh37
NC_000016.8:g.66027499_66027500insTGA NCBI36
NG_011482.1:g.50091_50092insTCA
NG_016549.1:g.9963_9964insTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000326152.6:c.617_618insTGA MANE Select ENSP00000316786.5:p.Leu206_Leu207insGlu
ENST00000326152.5:c.617_618insTGA ENSP00000316786.5:p.Leu206_Leu207insGlu
ENST00000566606.1:c.595_596insTGA ENSP00000473429.1:n.595_596insTGA
ENST00000567684.2:n.480_481insTGA
NM_000196.3:c.617_618insTGA NP_000187.3:p.Leu206_Leu207insGlu
NM_000196.4:c.617_618insTGA MANE Select NP_000187.3:p.Leu206_Leu207insGlu