Canonical Allele Identifier: CA619859345

Gene: IDH2

Linked Data

• dbSNP Id: rs1315788598
• gnomAD v2: 15-90631539-T-A
• gnomAD v3: 15-90088307-T-A
• gnomAD v4: 15-90088307-T-A
• MyVariant Identifiers: chr15:g.90631539T>A (hg19) ; chr15:g.90088307T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088307T>A , CM000677.2:g.90088307T>A	GRCh38
NC_000015.9:g.90631539T>A , CM000677.1:g.90631539T>A	GRCh37
NC_000015.8:g.88432543T>A	NCBI36
NG_023302.1:g.19170A>T , LRG_611:g.19170A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.678+52A>T MANE Select	ENSP00000331897.4:n.678+52A>T
ENST00000330062.7:c.678+52A>T	ENSP00000331897.3:n.678+52A>T
ENST00000540499.2:c.522+52A>T	ENSP00000446147.2:n.522+52A>T
ENST00000559482.5:c.351+52A>T	ENSP00000453016.1:n.351+52A>T
ENST00000560061.1:c.*303+52A>T	ENSP00000453254.1:n.*303+52A>T
NM_001289910.1:c.522+52A>T , LRG_611t1:c.522+52A>T	NP_001276839.1:n.522+52A>T
NM_001290114.1:c.288+52A>T	NP_001277043.1:n.288+52A>T
NM_002168.3:c.678+52A>T , LRG_611t2:c.678+52A>T	NP_002159.2:n.678+52A>T
NM_001290114.2:c.288+52A>T	NP_001277043.1:n.288+52A>T
NM_002168.4:c.678+52A>T MANE Select	NP_002159.2:n.678+52A>T