ClinVar

NM_006303.4(AIMP2):c.622G>A (p.Glu208Lys)

Genes:

AIMP2:aminoacyl tRNA synthetase complex interacting multifunctional protein 2 [Gene - OMIM - HGNC]
EIF2AK1:eukaryotic translation initiation factor 2 alpha kinase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7p22.1

Genomic location:

• Chr7: 6023350 (on Assembly GRCh38)
• Chr7: 6062981 (on Assembly GRCh37)

Preferred name:

NM_006303.4(AIMP2):c.622G>A (p.Glu208Lys)

HGVS:

• NC_000007.14:g.6023350G>A
• NG_050738.1:g.19100G>A
• NM_001134335.2:c.*1323C>T
• NM_001326606.2:c.502G>A
• NM_001326607.2:c.415G>A
• NM_001326609.2:c.388G>A
• NM_001326610.2:c.388G>A
• NM_001326611.3:c.388G>A
• NM_001362785.2:c.535G>A
• NM_001362787.2:c.490G>A
• NM_006303.4:c.622G>AMANE SELECT
• NM_014413.4:c.*1323C>TMANE SELECT
• NP_001313535.1:p.Glu168Lys
• NP_001313536.1:p.Glu139Lys
• NP_001313538.1:p.Glu130Lys
• NP_001313539.1:p.Glu130Lys
• NP_001313540.1:p.Glu130Lys
• NP_001349714.1:p.Glu179Lys
• NP_001349716.1:p.Glu164Lys
• NP_006294.2:p.Glu208Lys
• NC_000007.13:g.6062981G>A
• NM_006303.3:c.622G>A

This HGVS expression did not pass validation

Protein change:

E130K

Molecular consequence:

• NM_001134335.2:c.*1323C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_014413.4:c.*1323C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001326606.2:c.502G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001326607.2:c.415G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001326609.2:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001326610.2:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001326611.3:c.388G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362785.2:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362787.2:c.490G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_006303.4:c.622G>A - missense variant - [Sequence Ontology: SO:0001583]