ClinVar

NM_020442.6(VARS2):c.2448C>A (p.Asn816Lys)

Gene:

VARS2:valyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 30923487 (on Assembly GRCh38)
• Chr6: 30891264 (on Assembly GRCh37)

Preferred name:

NM_020442.6(VARS2):c.2448C>A (p.Asn816Lys)

HGVS:

• NC_000006.12:g.30923487C>A
• NG_034224.1:g.14280C>A
• NG_084147.2:g.1905C>A
• NM_001167733.3:c.2028C>A
• NM_001167734.2:c.2538C>A
• NM_020442.6:c.2448C>AMANE SELECT
• NP_001161205.1:p.Asn676Lys
• NP_001161206.1:p.Asn846Lys
• NP_065175.4:p.Asn816Lys
• NC_000006.11:g.30891264C>A

This HGVS expression did not pass validation

Protein change:

N676K

Molecular consequence:

• NM_001167733.3:c.2028C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001167734.2:c.2538C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_020442.6:c.2448C>A - missense variant - [Sequence Ontology: SO:0001583]