Canonical Allele Identifier: CA393801936

Gene: IDH2

Linked Data

• dbSNP Id: rs745751309
• gnomAD v2: 15-90631620-C-G
• gnomAD v3: 15-90088388-C-G
• gnomAD v4: 15-90088388-C-G
• MyVariant Identifiers: chr15:g.90631620C>G (hg19) ; chr15:g.90088388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088388C>G , CM000677.2:g.90088388C>G	GRCh38
NC_000015.9:g.90631620C>G , CM000677.1:g.90631620C>G	GRCh37
NC_000015.8:g.88432624C>G	NCBI36
NG_023302.1:g.19089G>C , LRG_611:g.19089G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.649G>C MANE Select	ENSP00000331897.4:p.Val217Leu
ENST00000330062.7:c.649G>C	ENSP00000331897.3:p.Val217Leu
ENST00000540499.2:c.493G>C	ENSP00000446147.2:p.Val165Leu
ENST00000559482.5:c.322G>C	ENSP00000453016.1:p.Val108Leu
ENST00000560061.1:c.*274G>C	ENSP00000453254.1:n.*274G>C
NM_001289910.1:c.493G>C , LRG_611t1:c.493G>C	NP_001276839.1:p.Val165Leu
NM_001290114.1:c.259G>C	NP_001277043.1:p.Val87Leu
NM_002168.3:c.649G>C , LRG_611t2:c.649G>C	NP_002159.2:p.Val217Leu
NM_001290114.2:c.259G>C	NP_001277043.1:p.Val87Leu
NM_002168.4:c.649G>C MANE Select	NP_002159.2:p.Val217Leu