Canonical Allele Identifier: CA393802387
Gene: IDH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088677G>T , CM000677.2:g.90088677G>T GRCh38
NC_000015.9:g.90631909G>T , CM000677.1:g.90631909G>T GRCh37
NC_000015.8:g.88432913G>T NCBI36
NG_023302.1:g.18800C>A , LRG_611:g.18800C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.444C>A MANE Select ENSP00000331897.4:p.Phe148Leu
ENST00000330062.7:c.444C>A ENSP00000331897.3:p.Phe148Leu
ENST00000540499.2:c.288C>A ENSP00000446147.2:p.Phe96Leu
ENST00000559482.5:c.208-175C>A ENSP00000453016.1:n.208-175C>A
ENST00000560061.1:c.*69C>A ENSP00000453254.1:n.*69C>A
NM_001289910.1:c.288C>A , LRG_611t1:c.288C>A NP_001276839.1:p.Phe96Leu
NM_001290114.1:c.54C>A NP_001277043.1:p.Phe18Leu
NM_002168.3:c.444C>A , LRG_611t2:c.444C>A NP_002159.2:p.Phe148Leu
NM_001290114.2:c.54C>A NP_001277043.1:p.Phe18Leu
NM_002168.4:c.444C>A MANE Select NP_002159.2:p.Phe148Leu