Canonical Allele Identifier: CA7733119

Gene: IDH2

Linked Data

• dbSNP Id: rs781210751
• ExAC: 15:90631612 C / A
• gnomAD v2: 15-90631612-C-A
• gnomAD v4: 15-90088380-C-A
• MyVariant Identifiers: chr15:g.90631612C>A (hg19) ; chr15:g.90088380C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088380C>A , CM000677.2:g.90088380C>A	GRCh38
NC_000015.9:g.90631612C>A , CM000677.1:g.90631612C>A	GRCh37
NC_000015.8:g.88432616C>A	NCBI36
NG_023302.1:g.19097G>T , LRG_611:g.19097G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.657G>T MANE Select	ENSP00000331897.4:p.Met219Ile
ENST00000330062.7:c.657G>T	ENSP00000331897.3:p.Met219Ile
ENST00000540499.2:c.501G>T	ENSP00000446147.2:p.Met167Ile
ENST00000559482.5:c.330G>T	ENSP00000453016.1:p.Met110Ile
ENST00000560061.1:c.*282G>T	ENSP00000453254.1:n.*282G>T
NM_001289910.1:c.501G>T , LRG_611t1:c.501G>T	NP_001276839.1:p.Met167Ile
NM_001290114.1:c.267G>T	NP_001277043.1:p.Met89Ile
NM_002168.3:c.657G>T , LRG_611t2:c.657G>T	NP_002159.2:p.Met219Ile
NM_001290114.2:c.267G>T	NP_001277043.1:p.Met89Ile
NM_002168.4:c.657G>T MANE Select	NP_002159.2:p.Met219Ile