Canonical Allele Identifier: CA7733189

Gene: IDH2

Linked Data

• dbSNP Id: rs144712130
• ExAC: 15:90631924 C / A
• gnomAD v2: 15-90631924-C-A
• gnomAD v4: 15-90088692-C-A
• MyVariant Identifiers: chr15:g.90631924C>A (hg19) ; chr15:g.90088692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088692C>A , CM000677.2:g.90088692C>A	GRCh38
NC_000015.9:g.90631924C>A , CM000677.1:g.90631924C>A	GRCh37
NC_000015.8:g.88432928C>A	NCBI36
NG_023302.1:g.18785G>T , LRG_611:g.18785G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.429G>T MANE Select	ENSP00000331897.4:p.Leu143=
ENST00000330062.7:c.429G>T	ENSP00000331897.3:p.Leu143=
ENST00000540499.2:c.273G>T	ENSP00000446147.2:p.Leu91=
ENST00000559482.5:c.208-190G>T	ENSP00000453016.1:n.208-190G>T
ENST00000560061.1:c.*54G>T	ENSP00000453254.1:n.*54G>T
NM_001289910.1:c.273G>T , LRG_611t1:c.273G>T	NP_001276839.1:p.Leu91=
NM_001290114.1:c.39G>T	NP_001277043.1:p.Leu13=
NM_002168.3:c.429G>T , LRG_611t2:c.429G>T	NP_002159.2:p.Leu143=
NM_001290114.2:c.39G>T	NP_001277043.1:p.Leu13=
NM_002168.4:c.429G>T MANE Select	NP_002159.2:p.Leu143=