Canonical Allele Identifier: CA16602873

Gene: IDH2

Linked Data

• ClinVar Variation Id: 376438
• ClinVar RCV Id: RCV000420203 ; RCV000425002 ; RCV000431322 ; RCV000437853 ; RCV000444821 ; RCV002254525
• dbSNP Id: rs1057519906
• COSMIC: COSM34039
• MyVariant Identifiers: chr15:g.90631839T>A (hg19) ; chr15:g.90088607T>A (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088607T>A , CM000677.2:g.90088607T>A	GRCh38
NC_000015.9:g.90631839T>A , CM000677.1:g.90631839T>A	GRCh37
NC_000015.8:g.88432843T>A	NCBI36
NG_023302.1:g.18870A>T , LRG_611:g.18870A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330062.8:c.514A>T MANE Select	ENSP00000331897.4:p.Arg172Trp
ENST00000330062.7:c.514A>T	ENSP00000331897.3:p.Arg172Trp
ENST00000540499.2:c.358A>T	ENSP00000446147.2:p.Arg120Trp
ENST00000559482.5:c.208-105A>T	ENSP00000453016.1:n.208-105A>T
ENST00000560061.1:c.*139A>T	ENSP00000453254.1:n.*139A>T
NM_001289910.1:c.358A>T , LRG_611t1:c.358A>T	NP_001276839.1:p.Arg120Trp
NM_001290114.1:c.124A>T	NP_001277043.1:p.Arg42Trp
NM_002168.3:c.514A>T , LRG_611t2:c.514A>T	NP_002159.2:p.Arg172Trp
NM_001290114.2:c.124A>T	NP_001277043.1:p.Arg42Trp
NM_002168.4:c.514A>T MANE Select	NP_002159.2:p.Arg172Trp