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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 ENSG00000137513:

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
ENSG00000137513	NARS2	1	39	2	ENSG00000137513	ENST00000281038	ENSP00000281038	asparaginyl-tRNA synthetase 2, mitochondrial (putative) [Source:HGNC Symbol;Acc:26274]	11	78147007	78285919	-1	q14.1	78147007	78285909	NARS2	NARS2-001	HGNC Symbol	HGNC transcript name	7	38.77	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	79731	26274	NARS2	NM_001243251	27504

MSeqDR Master Exome Data Set M1: 161 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	11	78147021	T	+A	ENST00000281038	ENSG00000137513	78147007	78285919	ENSP00000281038	NARS2	-1	SYNM_HUMAN	-	-	3'_UTR	rs144439548	-	-	-	-	-	-	het	2
2	11	78147030	C	A	ENST00000281038	ENSG00000137513	78147007	78285919	ENSP00000281038	NARS2	-1	SYNM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	11	78147055	A	G	ENST00000281038	ENSG00000137513	78147007	78285919	ENSP00000281038	NARS2	-1	SYNM_HUMAN	-	-	3'_UTR	rs1567889	0.3469	-	-	-	-	-	het	225
4	11	78147055	A	G	ENST00000281038	ENSG00000137513	78147007	78285919	ENSP00000281038	NARS2	-1	SYNM_HUMAN	-	-	3'_UTR	rs1567889	0.3469	-	-	-	-	-	hom	35
5	11	78147074	T	-AAC	ENST00000281038	ENSG00000137513	78147007	78285919	ENSP00000281038	NARS2	-1	SYNM_HUMAN	-	-	3'_UTR	rs146211204	-	-	-	-	-	-	het	19
6	11	78147374	T	C	ENST00000281038	ENSG00000137513	78147007	78285919	ENSP00000281038	NARS2	-1	SYNM_HUMAN	-	-	3'_UTR	rs7934948	0.1296	-	lod=14:251	-	-	-	het	13
7	11	78147374	T	C	ENST00000528850	ENSG00000137513	78147007	78285919	ENSP00000432635	NARS2	-1	-	-	-	3'_UTR	rs7934948	0.1296	-	lod=14:251	-	-	-	het	13
8	11	78147374	T	C	ENST00000529771	ENSG00000137513	78147007	78285919	ENSP00000435298	NARS2	-1	-	-	-	3'_UTR	rs7934948	0.1296	-	lod=14:251	-	-	-	het	13
9	11	78147393	G	A	ENST00000281038	ENSG00000137513	78147007	78285919	ENSP00000281038	NARS2	-1	SYNM_HUMAN	-	-	3'_UTR	rs142298861	0.0014	-	-	-	-	-	het	5
10	11	78147393	G	A	ENST00000528850	ENSG00000137513	78147007	78285919	ENSP00000432635	NARS2	-1	-	-	-	3'_UTR	rs142298861	0.0014	-	-	-	-	-	het	5
11	11	78147393	G	A	ENST00000529771	ENSG00000137513	78147007	78285919	ENSP00000435298	NARS2	-1	-	-	-	3'_UTR	rs142298861	0.0014	-	-	-	-	-	het	5
12	11	78147440	A	G	ENST00000281038	ENSG00000137513	78147007	78285919	ENSP00000281038	NARS2	-1	SYNM_HUMAN	-	-	3'_UTR	rs146091248	0.01204	-	-	-	-	-	het	11
13	11	78147440	A	G	ENST00000528850	ENSG00000137513	78147007	78285919	ENSP00000432635	NARS2	-1	-	-	-	3'_UTR	rs146091248	0.01204	-	-	-	-	-	het	11
14	11	78147440	A	G	ENST00000529771	ENSG00000137513	78147007	78285919	ENSP00000435298	NARS2	-1	-	-	-	3'_UTR	rs146091248	0.01204	-	-	-	-	-	het	11
15	11	78147497	C	T	ENST00000281038	ENSG00000137513	78147007	78285919	ENSP00000281038	NARS2	-1	SYNM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
16	11	78147497	C	T	ENST00000528850	ENSG00000137513	78147007	78285919	ENSP00000432635	NARS2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
17	11	78147497	C	T	ENST00000529771	ENSG00000137513	78147007	78285919	ENSP00000435298	NARS2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
18	11	78147517	G	A	ENST00000281038	ENSG00000137513	78147007	78285919	ENSP00000281038	NARS2	-1	SYNM_HUMAN	-	-	3'_UTR	rs73504911	0.1987	-	-	-	-	-	het	13
19	11	78147517	G	A	ENST00000528850	ENSG00000137513	78147007	78285919	ENSP00000432635	NARS2	-1	-	-	-	3'_UTR	rs73504911	0.1987	-	-	-	-	-	het	13
20	11	78147517	G	A	ENST00000529771	ENSG00000137513	78147007	78285919	ENSP00000435298	NARS2	-1	-	-	-	3'_UTR	rs73504911	0.1987	-	-	-	-	-	het	13

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Transcripts and variants in the surrounding NARS2 11:78147007..78285919 region Gbrowse