Canonical Allele Identifier: CA393802255
Gene: IDH2 HGNC NCBI

Linked Data

dbSNP Id: rs767668749

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088616T>G , CM000677.2:g.90088616T>G GRCh38
NC_000015.9:g.90631848T>G , CM000677.1:g.90631848T>G GRCh37
NC_000015.8:g.88432852T>G NCBI36
NG_023302.1:g.18861A>C , LRG_611:g.18861A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.505A>C MANE Select ENSP00000331897.4:p.Thr169Pro
ENST00000330062.7:c.505A>C ENSP00000331897.3:p.Thr169Pro
ENST00000540499.2:c.349A>C ENSP00000446147.2:p.Thr117Pro
ENST00000559482.5:c.208-114A>C ENSP00000453016.1:n.208-114A>C
ENST00000560061.1:c.*130A>C ENSP00000453254.1:n.*130A>C
NM_001289910.1:c.349A>C , LRG_611t1:c.349A>C NP_001276839.1:p.Thr117Pro
NM_001290114.1:c.115A>C NP_001277043.1:p.Thr39Pro
NM_002168.3:c.505A>C , LRG_611t2:c.505A>C NP_002159.2:p.Thr169Pro
NM_001290114.2:c.115A>C NP_001277043.1:p.Thr39Pro
NM_002168.4:c.505A>C MANE Select NP_002159.2:p.Thr169Pro