Canonical Allele Identifier: CA7733197

Gene: IDH2

Linked Data

• dbSNP Id: rs751288853
• ExAC: 15:90631978 C / T
• gnomAD v2: 15-90631978-C-T
• gnomAD v3: 15-90088746-C-T
• gnomAD v4: 15-90088746-C-T
• MyVariant Identifiers: chr15:g.90631978C>T (hg19) ; chr15:g.90088746C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088746C>T , CM000677.2:g.90088746C>T	GRCh38
NC_000015.9:g.90631978C>T , CM000677.1:g.90631978C>T	GRCh37
NC_000015.8:g.88432982C>T	NCBI36
NG_023302.1:g.18731G>A , LRG_611:g.18731G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.375G>A MANE Select	ENSP00000331897.4:p.Glu125=
ENST00000330062.7:c.375G>A	ENSP00000331897.3:p.Glu125=
ENST00000540499.2:c.219G>A	ENSP00000446147.2:p.Glu73=
ENST00000559482.5:c.208-244G>A	ENSP00000453016.1:n.208-244G>A
ENST00000560061.1:c.117G>A	ENSP00000453254.1:p.Ter39=
NM_001289910.1:c.219G>A , LRG_611t1:c.219G>A	NP_001276839.1:p.Glu73=
NM_001290114.1:c.-16G>A	NP_001277043.1:n.-16G>A
NM_002168.3:c.375G>A , LRG_611t2:c.375G>A	NP_002159.2:p.Glu125=
NM_001290114.2:c.-16G>A	NP_001277043.1:n.-16G>A
NM_002168.4:c.375G>A MANE Select	NP_002159.2:p.Glu125=