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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term CARS2:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000134905	CARS2	1	591	3	ENSG00000134905	ENST00000537386		cysteinyl-tRNA synthetase 2, mitochondrial (putative) [Source:HGNC Symbol;Acc:25695]	13	111293759	111365950	-1	q34	111299026	111315975	CARS2	CARS2-025	HGNC Symbol	HGNC transcript name	32	48.05	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	79587	25695	CARS2		27513

MSeqDR Master Exome Data Set M1: 626 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	13	111293799	C	G	ENST00000257347	ENSG00000134905	111293759	111365950	ENSP00000257347	CARS2	-1	SYCM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	13	111293799	C	G	ENST00000375781	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.2712G>C	p.S904S	syn	NA	-	-	-	-	-	-	het	2
3	13	111293799	C	G	ENST00000481787	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.1214G>C	p.R405P	non-syn	NA	-	-	-	-	-	-	het	2
4	13	111293799	C	G	ENST00000535516	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.2280G>C	p.S760S	syn	NA	-	-	-	-	-	-	het	2
5	13	111293799	C	G	ENST00000537802	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.3192G>C	p.S1064S	syn	NA	-	-	-	-	-	-	het	2
6	13	111293799	C	G	ENST00000540006	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.1445G>C	p.R482P	non-syn	NA	-	-	-	-	-	-	het	2
7	13	111293799	C	G	ENST00000541239	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.3476G>C	p.R1159P	non-syn	NA	-	-	-	-	-	-	het	2
8	13	111293830	C	G	ENST00000257347	ENSG00000134905	111293759	111365950	ENSP00000257347	CARS2	-1	SYCM_HUMAN	-	-	3'_UTR	rs3818499	0.0507	G=1/C=3181;G=113/C=1271;G=114/C=4452	-	-	-	-	het	14
9	13	111293830	C	G	ENST00000375781	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.2681G>C	p.R894T	non-syn	rs3818499	0.0507	G=1/C=3181;G=113/C=1271;G=114/C=4452	-	-	-	-	het	14
10	13	111293830	C	G	ENST00000481787	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.1183G>C	p.G395R	non-syn	rs3818499	0.0507	G=1/C=3181;G=113/C=1271;G=114/C=4452	-	-	-	-	het	14
11	13	111293830	C	G	ENST00000535516	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.2249G>C	p.R750T	non-syn	rs3818499	0.0507	G=1/C=3181;G=113/C=1271;G=114/C=4452	-	-	-	-	het	14
12	13	111293830	C	G	ENST00000537802	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.3161G>C	p.R1054T	non-syn	rs3818499	0.0507	G=1/C=3181;G=113/C=1271;G=114/C=4452	-	-	-	-	het	14
13	13	111293830	C	G	ENST00000540006	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.1414G>C	p.G472R	non-syn	rs3818499	0.0507	G=1/C=3181;G=113/C=1271;G=114/C=4452	-	-	-	-	het	14
14	13	111293830	C	G	ENST00000541239	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.3445G>C	p.G1149R	non-syn	rs3818499	0.0507	G=1/C=3181;G=113/C=1271;G=114/C=4452	-	-	-	-	het	14
15	13	111293847	G	A	ENST00000257347	ENSG00000134905	111293759	111365950	ENSP00000257347	CARS2	-1	SYCM_HUMAN	-	-	3'_UTR	rs330570	0.4003	A=1011/G=7589;A=2029/G=2377;A=3040/G=9966	-	-	-	-	het	266
16	13	111293847	G	A	ENST00000257347	ENSG00000134905	111293759	111365950	ENSP00000257347	CARS2	-1	SYCM_HUMAN	-	-	3'_UTR	rs330570	0.4003	A=1011/G=7589;A=2029/G=2377;A=3040/G=9966	-	-	-	-	hom	27
17	13	111293847	G	A	ENST00000375781	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.2664C>T	p.D888D	syn	rs330570	0.4003	A=1011/G=7589;A=2029/G=2377;A=3040/G=9966	-	-	-	-	het	266
18	13	111293847	G	A	ENST00000375781	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.2664C>T	p.D888D	syn	rs330570	0.4003	A=1011/G=7589;A=2029/G=2377;A=3040/G=9966	-	-	-	-	hom	27
19	13	111293847	G	A	ENST00000481787	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.1166C>T	p.T389M	non-syn	rs330570	0.4003	A=1011/G=7589;A=2029/G=2377;A=3040/G=9966	-	-	-	-	het	266
20	13	111293847	G	A	ENST00000481787	ENSG00000134905	111293759	111365950	-	CARS2	-1	-	c.1166C>T	p.T389M	non-syn	rs330570	0.4003	A=1011/G=7589;A=2029/G=2377;A=3040/G=9966	-	-	-	-	hom	27

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Transcripts and variants in the surrounding CARS2 13:111293759..111365950 region Gbrowse