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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 EARS2:

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
ENSG00000103356	EARS2	1	74	15	ENSG00000103356	ENST00000566017		glutamyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:29419]	16	23533335	23569052	-1	p12.2	23546595	23556583	EARS2	EARS2-005	HGNC Symbol	HGNC transcript name	17	47.93	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	PUTATIVE	124454	29419	EARS2		27514

MSeqDR Master Exome Data Set M1: 166 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	16	23535307	C	-TCTGT	ENST00000449606	ENSG00000103356	23533335	23569052	ENSP00000395196	EARS2	-1	SYEM_HUMAN	-	-	3'_UTR	rs3071379	-	-	-	-	-	-	het	1
2	16	23535307	C	-TCTGT	ENST00000563459	ENSG00000103356	23533335	23569052	ENSP00000456467	EARS2	-1	SYEM_HUMAN	-	-	3'_UTR	rs3071379	-	-	-	-	-	-	het	1
3	16	23535307	C	-TCTGT	ENST00000564776	ENSG00000103356	23533335	23569052	-	EARS2	-1	-	c.94_98del	p.E33NA	non-syn	rs3071379	-	-	-	-	-	-	het	1
4	16	23535307	C	-TCTGT	ENST00000564987	ENSG00000103356	23533335	23569052	-	EARS2	-1	-	c.1596_1600del	p.R534NA	non-syn	rs3071379	-	-	-	-	-	-	het	1
5	16	23535601	G	A	ENST00000449606	ENSG00000103356	23533335	23569052	ENSP00000395196	EARS2	-1	SYEM_HUMAN	-	-	3'_UTR	rs141499212	0.0044	-	-	-	-	-	het	2
6	16	23535601	G	A	ENST00000563459	ENSG00000103356	23533335	23569052	ENSP00000456467	EARS2	-1	SYEM_HUMAN	-	-	3'_UTR	rs141499212	0.0044	-	-	-	-	-	het	2
7	16	23535601	G	A	ENST00000564987	ENSG00000103356	23533335	23569052	-	EARS2	-1	-	c.1307C>T	p.S436L	non-syn	rs141499212	0.0044	-	-	-	-	-	het	2
8	16	23535677	C	G	ENST00000449606	ENSG00000103356	23533335	23569052	ENSP00000395196	EARS2	-1	SYEM_HUMAN	-	-	3'_UTR	rs200936622	-	G=6/C=8282;G=0/C=3936;G=6/C=12218	-	-	-	-	het	1
9	16	23535677	C	G	ENST00000563459	ENSG00000103356	23533335	23569052	ENSP00000456467	EARS2	-1	SYEM_HUMAN	-	-	3'_UTR	rs200936622	-	G=6/C=8282;G=0/C=3936;G=6/C=12218	-	-	-	-	het	1
10	16	23535677	C	G	ENST00000564987	ENSG00000103356	23533335	23569052	-	EARS2	-1	-	c.1231G>C	p.G411R	non-syn	rs200936622	-	G=6/C=8282;G=0/C=3936;G=6/C=12218	-	-	-	-	het	1
11	16	23535680	A	C	ENST00000449606	ENSG00000103356	23533335	23569052	ENSP00000395196	EARS2	-1	SYEM_HUMAN	-	-	3'_UTR	rs1468138	0.84135	C=7124/A=1170;C=3274/A=664;C=10398/A=1834	-	-	-	-	het	221
12	16	23535680	A	C	ENST00000449606	ENSG00000103356	23533335	23569052	ENSP00000395196	EARS2	-1	SYEM_HUMAN	-	-	3'_UTR	rs1468138	0.84135	C=7124/A=1170;C=3274/A=664;C=10398/A=1834	-	-	-	-	hom	824
13	16	23535680	A	C	ENST00000563459	ENSG00000103356	23533335	23569052	ENSP00000456467	EARS2	-1	SYEM_HUMAN	-	-	3'_UTR	rs1468138	0.84135	C=7124/A=1170;C=3274/A=664;C=10398/A=1834	-	-	-	-	het	221
14	16	23535680	A	C	ENST00000563459	ENSG00000103356	23533335	23569052	ENSP00000456467	EARS2	-1	SYEM_HUMAN	-	-	3'_UTR	rs1468138	0.84135	C=7124/A=1170;C=3274/A=664;C=10398/A=1834	-	-	-	-	hom	824
15	16	23535680	A	C	ENST00000564987	ENSG00000103356	23533335	23569052	-	EARS2	-1	-	c.1228T>G	p.F410V	non-syn	rs1468138	0.84135	C=7124/A=1170;C=3274/A=664;C=10398/A=1834	-	-	-	-	het	221
16	16	23535680	A	C	ENST00000564987	ENSG00000103356	23533335	23569052	-	EARS2	-1	-	c.1228T>G	p.F410V	non-syn	rs1468138	0.84135	C=7124/A=1170;C=3274/A=664;C=10398/A=1834	-	-	-	-	hom	824
17	16	23536366	T	C	ENST00000563232	ENSG00000103356	23533335	23569052	ENSP00000456218	EARS2	-1	-	-	-	3'_UTR	rs6497670	0.83845	-	-	-	-	-	het	115
18	16	23536366	T	C	ENST00000563232	ENSG00000103356	23533335	23569052	ENSP00000456218	EARS2	-1	-	-	-	3'_UTR	rs6497670	0.83845	-	-	-	-	-	hom	533
19	16	23536366	T	C	ENST00000564501	ENSG00000103356	23533335	23569052	ENSP00000457107	EARS2	-1	-	-	-	3'_UTR	rs6497670	0.83845	-	-	-	-	-	het	115
20	16	23536366	T	C	ENST00000564501	ENSG00000103356	23533335	23569052	ENSP00000457107	EARS2	-1	-	-	-	3'_UTR	rs6497670	0.83845	-	-	-	-	-	hom	533

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Transcripts and variants in the surrounding EARS2 16:23533335..23569052 region Gbrowse