Canonical Allele Identifier: CA7733116

Gene: IDH2

Linked Data

• dbSNP Id: rs543891249
• ExAC: 15:90631594 G / A
• gnomAD v2: 15-90631594-G-A
• gnomAD v3: 15-90088362-G-A
• gnomAD v4: 15-90088362-G-A
• MyVariant Identifiers: chr15:g.90631594G>A (hg19) ; chr15:g.90088362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088362G>A , CM000677.2:g.90088362G>A	GRCh38
NC_000015.9:g.90631594G>A , CM000677.1:g.90631594G>A	GRCh37
NC_000015.8:g.88432598G>A	NCBI36
NG_023302.1:g.19115C>T , LRG_611:g.19115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.675C>T MANE Select	ENSP00000331897.4:p.Asp225=
ENST00000330062.7:c.675C>T	ENSP00000331897.3:p.Asp225=
ENST00000540499.2:c.519C>T	ENSP00000446147.2:p.Asp173=
ENST00000559482.5:c.348C>T	ENSP00000453016.1:p.Asp116=
ENST00000560061.1:c.*300C>T	ENSP00000453254.1:n.*300C>T
NM_001289910.1:c.519C>T , LRG_611t1:c.519C>T	NP_001276839.1:p.Asp173=
NM_001290114.1:c.285C>T	NP_001277043.1:p.Asp95=
NM_002168.3:c.675C>T , LRG_611t2:c.675C>T	NP_002159.2:p.Asp225=
NM_001290114.2:c.285C>T	NP_001277043.1:p.Asp95=
NM_002168.4:c.675C>T MANE Select	NP_002159.2:p.Asp225=