Canonical Allele Identifier: CA393802529
Gene: IDH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088745A>G , CM000677.2:g.90088745A>G GRCh38
NC_000015.9:g.90631977A>G , CM000677.1:g.90631977A>G GRCh37
NC_000015.8:g.88432981A>G NCBI36
NG_023302.1:g.18732T>C , LRG_611:g.18732T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.376T>C MANE Select ENSP00000331897.4:p.Phe126Leu
ENST00000330062.7:c.376T>C ENSP00000331897.3:p.Phe126Leu
ENST00000540499.2:c.220T>C ENSP00000446147.2:p.Phe74Leu
ENST00000559482.5:c.208-243T>C ENSP00000453016.1:n.208-243T>C
ENST00000560061.1:c.*1T>C ENSP00000453254.1:n.*1T>C
NM_001289910.1:c.220T>C , LRG_611t1:c.220T>C NP_001276839.1:p.Phe74Leu
NM_001290114.1:c.-15T>C NP_001277043.1:n.-15T>C
NM_002168.3:c.376T>C , LRG_611t2:c.376T>C NP_002159.2:p.Phe126Leu
NM_001290114.2:c.-15T>C NP_001277043.1:n.-15T>C
NM_002168.4:c.376T>C MANE Select NP_002159.2:p.Phe126Leu