ClinVar

NM_001083614.2(EARS2):c.15G>C (p.Leu5=)

Gene:

EARS2:glutamyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p12.2

Genomic location:

• Chr16: 23557329 (on Assembly GRCh38)
• Chr16: 23568650 (on Assembly GRCh37)

Preferred name:

NM_001083614.2(EARS2):c.15G>C (p.Leu5=)

HGVS:

• NC_000016.10:g.23557329C>G
• NG_027752.2:g.5047G>C
• NM_001083614.2:c.15G>CMANE SELECT
• NM_001308211.1:c.15G>C
• NP_001077083.1:p.Leu5=
• NP_001295140.1:p.Leu5=
• NC_000016.9:g.23568650C>G
• NR_003501.2:n.22G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs587780932

NCBI 1000 Genomes Browser:

rs587780932

Molecular consequence:

• NR_003501.2:n.22G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001083614.2:c.15G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001308211.1:c.15G>C - synonymous variant - [Sequence Ontology: SO:0001819]