Canonical Allele Identifier: CA274623495

Gene: IDH2

Linked Data

• ClinVar Variation Id: 1629521
• ClinVar RCV Id: RCV002118366
• dbSNP Id: rs940765473
• gnomAD v2: 15-90631572-A-G
• gnomAD v3: 15-90088340-A-G
• gnomAD v4: 15-90088340-A-G
• MyVariant Identifiers: chr15:g.90631572A>G (hg19) ; chr15:g.90088340A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088340A>G , CM000677.2:g.90088340A>G	GRCh38
NC_000015.9:g.90631572A>G , CM000677.1:g.90631572A>G	GRCh37
NC_000015.8:g.88432576A>G	NCBI36
NG_023302.1:g.19137T>C , LRG_611:g.19137T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.678+19T>C MANE Select	ENSP00000331897.4:n.678+19T>C
ENST00000330062.7:c.678+19T>C	ENSP00000331897.3:n.678+19T>C
ENST00000540499.2:c.522+19T>C	ENSP00000446147.2:n.522+19T>C
ENST00000559482.5:c.351+19T>C	ENSP00000453016.1:n.351+19T>C
ENST00000560061.1:c.*303+19T>C	ENSP00000453254.1:n.*303+19T>C
NM_001289910.1:c.522+19T>C , LRG_611t1:c.522+19T>C	NP_001276839.1:n.522+19T>C
NM_001290114.1:c.288+19T>C	NP_001277043.1:n.288+19T>C
NM_002168.3:c.678+19T>C , LRG_611t2:c.678+19T>C	NP_002159.2:n.678+19T>C
NM_001290114.2:c.288+19T>C	NP_001277043.1:n.288+19T>C
NM_002168.4:c.678+19T>C MANE Select	NP_002159.2:n.678+19T>C