ClinVar

NM_012208.4(HARS2):c.137T>A (p.Leu46Gln)

Gene:

HARS2:histidyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 140693619 (on Assembly GRCh38)
• Chr5: 140073204 (on Assembly GRCh37)

Preferred name:

NM_012208.4(HARS2):c.137T>A (p.Leu46Gln)

HGVS:

• NC_000005.10:g.140693619T>A
• NG_021415.1:g.7187T>A
• NG_032158.1:g.2768A>T
• NM_001278731.2:c.109-316T>A
• NM_001278732.2:c.-74T>A
• NM_001363535.2:c.155T>A
• NM_001363536.2:c.-74T>A
• NM_012208.4:c.137T>AMANE SELECT
• NP_001350464.1:p.Leu52Gln
• NP_036340.1:p.Leu46Gln
• LRG_1376t1:c.137T>A
• LRG_1374:g.2768A>T
• LRG_1376:g.7187T>A
• LRG_1376p1:p.Leu46Gln
• NC_000005.9:g.140073204T>A
• NM_012208.3:c.137T>A

This HGVS expression did not pass validation

Protein change:

L46Q

Links:

dbSNP: rs1562047621

NCBI 1000 Genomes Browser:

rs1562047621

Molecular consequence:

• NM_001278732.2:c.-74T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001363536.2:c.-74T>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001278731.2:c.109-316T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001363535.2:c.155T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_012208.4:c.137T>A - missense variant - [Sequence Ontology: SO:0001583]