Canonical Allele Identifier: CA393801912
Gene: IDH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2694088
ClinVar RCV Id: RCV003514696

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.90088376T>C , CM000677.2:g.90088376T>C GRCh38
NC_000015.9:g.90631608T>C , CM000677.1:g.90631608T>C GRCh37
NC_000015.8:g.88432612T>C NCBI36
NG_023302.1:g.19101A>G , LRG_611:g.19101A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330062.8:c.661A>G MANE Select ENSP00000331897.4:p.Met221Val
ENST00000330062.7:c.661A>G ENSP00000331897.3:p.Met221Val
ENST00000540499.2:c.505A>G ENSP00000446147.2:p.Met169Val
ENST00000559482.5:c.334A>G ENSP00000453016.1:p.Met112Val
ENST00000560061.1:c.*286A>G ENSP00000453254.1:n.*286A>G
NM_001289910.1:c.505A>G , LRG_611t1:c.505A>G NP_001276839.1:p.Met169Val
NM_001290114.1:c.271A>G NP_001277043.1:p.Met91Val
NM_002168.3:c.661A>G , LRG_611t2:c.661A>G NP_002159.2:p.Met221Val
NM_001290114.2:c.271A>G NP_001277043.1:p.Met91Val
NM_002168.4:c.661A>G MANE Select NP_002159.2:p.Met221Val