Hs01775284_cn

• Gene Symbol: AARS2
• Assay Reference Genome Location: Chr.6:44299807 on build GRCh38
• Cytoband: 6p21.1

Target Gene Details

• Entrez Gene ID: 57505
• Gene Name: alanyl-tRNA synthetase 2, mitochondrial
• Gene Aliases: AARSL, COXPD8, LKENP, MT-ALARS, MTALARS
• Location: Chr.6:44297850-44313358 on Build GRCh38
• Assay Gene Location: Within Exon 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
AARS2	NM_020745.3	22	3701	NP_065796.1
	XM_005249245.3	20	3442	XP_005249302.1
	XM_011514764.2			XP_011513066.1
	XM_017011112.1	20	3283	XP_016866601.1
	AB033096.1	22	3701
	BC013593.1	13	2396	AAH13593.1
	BC131728.1	22	3701

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv462936	Chr.6:44224183 - 44314579 on Build GRCh38	Loss	MIR4647 TCTE1 SLC35B2 TMEM151B AARS2 HSP90AB1 NFKBIE SLC29A1

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

aminoacyl-tRNA synthetase

Gene Ontology Categories:

Process(es)

tRNA modification
mitochondrial respiratory chain complex assembly
mitochondrial alanyl-tRNA aminoacylation

Function(s)

tRNA binding
alanine-tRNA ligase activity
ATP binding
zinc ion binding
amino acid binding