Canonical Allele Identifier: CA393801977

Gene: IDH2

Linked Data

• ClinVar Variation Id: 2813507
• ClinVar RCV Id: RCV003630330
• dbSNP Id: rs1347554317
• gnomAD v2: 15-90631640-T-C
• gnomAD v4: 15-90088408-T-C
• MyVariant Identifiers: chr15:g.90631640T>C (hg19) ; chr15:g.90088408T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088408T>C , CM000677.2:g.90088408T>C	GRCh38
NC_000015.9:g.90631640T>C , CM000677.1:g.90631640T>C	GRCh37
NC_000015.8:g.88432644T>C	NCBI36
NG_023302.1:g.19069A>G , LRG_611:g.19069A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.629A>G MANE Select	ENSP00000331897.4:p.Tyr210Cys
ENST00000330062.7:c.629A>G	ENSP00000331897.3:p.Tyr210Cys
ENST00000540499.2:c.473A>G	ENSP00000446147.2:p.Tyr158Cys
ENST00000559482.5:c.302A>G	ENSP00000453016.1:p.Tyr101Cys
ENST00000560061.1:c.*254A>G	ENSP00000453254.1:n.*254A>G
NM_001289910.1:c.473A>G , LRG_611t1:c.473A>G	NP_001276839.1:p.Tyr158Cys
NM_001290114.1:c.239A>G	NP_001277043.1:p.Tyr80Cys
NM_002168.3:c.629A>G , LRG_611t2:c.629A>G	NP_002159.2:p.Tyr210Cys
NM_001290114.2:c.239A>G	NP_001277043.1:p.Tyr80Cys
NM_002168.4:c.629A>G MANE Select	NP_002159.2:p.Tyr210Cys