Canonical Allele Identifier: CA274623819

Gene: IDH2

Linked Data

• ClinVar Variation Id: 2200344
• ClinVar RCV Id: RCV002644104 ; RCV003926751
• dbSNP Id: rs1050572551
• gnomAD v2: 15-90631834-G-A
• gnomAD v3: 15-90088602-G-A
• gnomAD v4: 15-90088602-G-A
• MyVariant Identifiers: chr15:g.90631834G>A (hg19) ; chr15:g.90088602G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088602G>A , CM000677.2:g.90088602G>A	GRCh38
NC_000015.9:g.90631834G>A , CM000677.1:g.90631834G>A	GRCh37
NC_000015.8:g.88432838G>A	NCBI36
NG_023302.1:g.18875C>T , LRG_611:g.18875C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330062.8:c.519C>T MANE Select	ENSP00000331897.4:p.His173=
ENST00000330062.7:c.519C>T	ENSP00000331897.3:p.His173=
ENST00000540499.2:c.363C>T	ENSP00000446147.2:p.His121=
ENST00000559482.5:c.208-100C>T	ENSP00000453016.1:n.208-100C>T
ENST00000560061.1:c.*144C>T	ENSP00000453254.1:n.*144C>T
NM_001289910.1:c.363C>T , LRG_611t1:c.363C>T	NP_001276839.1:p.His121=
NM_001290114.1:c.129C>T	NP_001277043.1:p.His43=
NM_002168.3:c.519C>T , LRG_611t2:c.519C>T	NP_002159.2:p.His173=
NM_001290114.2:c.129C>T	NP_001277043.1:p.His43=
NM_002168.4:c.519C>T MANE Select	NP_002159.2:p.His173=