ClinVar

NM_006303.4(AIMP2):c.640G>C (p.Ala214Pro)

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: 6023368 (on Assembly GRCh38)
• Chr7: 6062999 (on Assembly GRCh37)

Preferred name:

NM_006303.4(AIMP2):c.640G>C (p.Ala214Pro)

HGVS:

• NC_000007.14:g.6023368G>C
• NG_050738.1:g.19118G>C
• NM_001134335.2:c.*1305C>G
• NM_001326606.2:c.520G>C
• NM_001326607.2:c.433G>C
• NM_001326609.2:c.406G>C
• NM_001326610.2:c.406G>C
• NM_001326611.3:c.406G>C
• NM_001362785.2:c.553G>C
• NM_001362787.2:c.508G>C
• NM_006303.4:c.640G>CMANE SELECT
• NM_014413.4:c.*1305C>GMANE SELECT
• NP_001313535.1:p.Ala174Pro
• NP_001313536.1:p.Ala145Pro
• NP_001313538.1:p.Ala136Pro
• NP_001313539.1:p.Ala136Pro
• NP_001313540.1:p.Ala136Pro
• NP_001349714.1:p.Ala185Pro
• NP_001349716.1:p.Ala170Pro
• NP_006294.2:p.Ala214Pro
• NC_000007.13:g.6062999G>C
• NM_006303.3:c.640G>C

This HGVS expression did not pass validation

Protein change:

A136P

Molecular consequence:

• NM_001134335.2:c.*1305C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_014413.4:c.*1305C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001326606.2:c.520G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001326607.2:c.433G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001326609.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001326610.2:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001326611.3:c.406G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362785.2:c.553G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362787.2:c.508G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_006303.4:c.640G>C - missense variant - [Sequence Ontology: SO:0001583]