ClinVar

NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)

Gene:

IDH2:isocitrate dehydrogenase (NADP(+)) 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 90088702 (on Assembly GRCh38)
• Chr15: 90631934 (on Assembly GRCh37)

Preferred name:

NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)

HGVS:

• NC_000015.10:g.90088702C>T
• NG_023302.1:g.18775G>A
• NM_001289910.1:c.263G>A
• NM_001290114.2:c.29G>A
• NM_002168.4:c.419G>AMANE SELECT
• NP_001276839.1:p.Arg88Gln
• NP_001277043.1:p.Arg10Gln
• NP_002159.2:p.Arg140Gln
• NP_002159.2:p.Arg140Gln
• LRG_611t1:c.263G>A
• LRG_611t2:c.419G>A
• LRG_611:g.18775G>A
• LRG_611p1:p.Arg88Gln
• LRG_611p2:p.Arg140Gln
• NC_000015.9:g.90631934C>T
• NM_002168.2:c.419G>A
• NM_002168.3:c.419G>A
• P48735:p.Arg140Gln

This HGVS expression did not pass validation

Protein change:

R10Q; ARG140GLN

Links:

UniProtKB: P48735#VAR_065175; OMIM: 147650.0001; dbSNP: rs121913502

NCBI 1000 Genomes Browser:

rs121913502

Molecular consequence:

• NM_001289910.1:c.263G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290114.2:c.29G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002168.4:c.419G>A - missense variant - [Sequence Ontology: SO:0001583]