TARS2 threonyl-tRNA synthetase 2, mitochondrial

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: TARS2
Type: protein-coding
Description: threonyl-tRNA synthetase 2, mitochondrial
Entrez Gene ID: 80222
Genome: hg19
Position: chr1:150,459,895-150,480,078
Genome: hg38
Position: chr1:150,487,419-150,507,602
MIM: 612805 OMIM
HGNC: HGNC:30740 HGNC
Ensembl: ENSG00000143374 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	8
Likely pathogenic	0	22
Benign	0	110
Likely benign	0	182
Conflicting classifications of pathogenicity	0	4
Uncertain significance	0	194

Ranking

	ClinVar
	0
	0
	80
	394
	24

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	COXPD21
SYNONYM	TARSL1
SYNONYM	thrRS
MIM	612805 OMIM
HGNC	HGNC:30740 HGNC
Ensembl	ENSG00000143374 Ensembl
AllianceGenome	HGNC:30740

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000606933.5	hg38	chr1	150,487,420	150,507,284	19,865
ENST00000369054.6	hg38	chr1	150,487,414	150,507,258	19,845
ENST00000369064.8	hg38	chr1	150,487,419	150,507,602	20,184
ENST00000369054.6	hg19	chr1	150,459,890	150,479,734	19,845
ENST00000369064.8	hg19	chr1	150,459,895	150,480,078	20,184
ENST00000606933.5	hg19	chr1	150,459,896	150,479,760	19,865

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