Canonical Allele Identifier: CA393802166

Gene: IDH2

Linked Data

• dbSNP Id: rs1190165001
• gnomAD v3: 15-90088496-C-G
• gnomAD v4: 15-90088496-C-G
• MyVariant Identifiers: chr15:g.90631728C>G (hg19) ; chr15:g.90088496C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.90088496C>G , CM000677.2:g.90088496C>G	GRCh38
NC_000015.9:g.90631728C>G , CM000677.1:g.90631728C>G	GRCh37
NC_000015.8:g.88432732C>G	NCBI36
NG_023302.1:g.18981G>C , LRG_611:g.18981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330062.8:c.541G>C MANE Select	ENSP00000331897.4:p.Ala181Pro
ENST00000330062.7:c.541G>C	ENSP00000331897.3:p.Ala181Pro
ENST00000540499.2:c.385G>C	ENSP00000446147.2:p.Ala129Pro
ENST00000559482.5:c.214G>C	ENSP00000453016.1:p.Ala72Pro
ENST00000560061.1:c.*166G>C	ENSP00000453254.1:n.*166G>C
NM_001289910.1:c.385G>C , LRG_611t1:c.385G>C	NP_001276839.1:p.Ala129Pro
NM_001290114.1:c.151G>C	NP_001277043.1:p.Ala51Pro
NM_002168.3:c.541G>C , LRG_611t2:c.541G>C	NP_002159.2:p.Ala181Pro
NM_001290114.2:c.151G>C	NP_001277043.1:p.Ala51Pro
NM_002168.4:c.541G>C MANE Select	NP_002159.2:p.Ala181Pro