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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 MYH2:

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
ENSG00000125414	MYH2	0	0	0	ENSG00000125414	ENST00000532183	ENSP00000433944	myosin, heavy chain 2, skeletal muscle, adult [Source:HGNC Symbol;Acc:7572]	17	10424465	10453274	-1	p13.1	10424465	10452940	MYH2	MYH2-006	HGNC Symbol	HGNC transcript name	5	39.32	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	4620	7572	MYH2		27509

MSeqDR Master Exome Data Set M1: 174 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	17	10424603	T	C	ENST00000245503	ENSG00000125414	10424465	10453274	ENSP00000245503	MYH2	-1	MYH2_HUMAN	c.5820A>G	p.E1940E	syn	rs140527143	0.0043	C=0/T=8600;C=9/T=4397;C=9/T=12997	lod=75:431	-	-	-	het	2
2	17	10424603	T	C	ENST00000397183	ENSG00000125414	10424465	10453274	ENSP00000380367	MYH2	-1	MYH2_HUMAN	c.5820A>G	p.E1940E	syn	rs140527143	0.0043	C=0/T=8600;C=9/T=4397;C=9/T=12997	lod=75:431	-	-	-	het	2
3	17	10424603	T	C	ENST00000532183	ENSG00000125414	10424465	10453274	ENSP00000433944	MYH2	-1	-	c.2121A>G	p.E707E	syn	rs140527143	0.0043	C=0/T=8600;C=9/T=4397;C=9/T=12997	lod=75:431	-	-	-	het	2
4	17	10424643	C	T	ENST00000245503	ENSG00000125414	10424465	10453274	ENSP00000245503	MYH2	-1	MYH2_HUMAN	c.5780G>A	p.R1927Q	non-syn	rs34161789	0.01032	T=64/C=8536;T=6/C=4400;T=70/C=12936	lod=299:578	DAMAGING	D	-	het	9
5	17	10424643	C	T	ENST00000245503	ENSG00000125414	10424465	10453274	ENSP00000245503	MYH2	-1	MYH2_HUMAN	c.5780G>A	p.R1927Q	non-syn	rs34161789	0.01032	T=64/C=8536;T=6/C=4400;T=70/C=12936	lod=299:578	DAMAGING	D	-	hom	1
6	17	10424643	C	T	ENST00000397183	ENSG00000125414	10424465	10453274	ENSP00000380367	MYH2	-1	MYH2_HUMAN	c.5780G>A	p.R1927Q	non-syn	rs34161789	0.01032	T=64/C=8536;T=6/C=4400;T=70/C=12936	lod=299:578	DAMAGING	D	-	het	9
7	17	10424643	C	T	ENST00000397183	ENSG00000125414	10424465	10453274	ENSP00000380367	MYH2	-1	MYH2_HUMAN	c.5780G>A	p.R1927Q	non-syn	rs34161789	0.01032	T=64/C=8536;T=6/C=4400;T=70/C=12936	lod=299:578	DAMAGING	D	-	hom	1
8	17	10424643	C	T	ENST00000532183	ENSG00000125414	10424465	10453274	ENSP00000433944	MYH2	-1	-	c.2081G>A	p.R694Q	non-syn	rs34161789	0.01032	T=64/C=8536;T=6/C=4400;T=70/C=12936	lod=299:578	DAMAGING	D	-	het	9
9	17	10424643	C	T	ENST00000532183	ENSG00000125414	10424465	10453274	ENSP00000433944	MYH2	-1	-	c.2081G>A	p.R694Q	non-syn	rs34161789	0.01032	T=64/C=8536;T=6/C=4400;T=70/C=12936	lod=299:578	DAMAGING	D	-	hom	1
10	17	10424730	T	C	ENST00000245503	ENSG00000125414	10424465	10453274	ENSP00000245503	MYH2	-1	MYH2_HUMAN	c.5693A>G	p.N1898S	non-syn	NA	-	-	lod=313:583	DAMAGING	P	-	het	1
11	17	10424730	T	C	ENST00000397183	ENSG00000125414	10424465	10453274	ENSP00000380367	MYH2	-1	MYH2_HUMAN	c.5693A>G	p.N1898S	non-syn	NA	-	-	lod=313:583	DAMAGING	P	-	het	1
12	17	10424730	T	C	ENST00000532183	ENSG00000125414	10424465	10453274	ENSP00000433944	MYH2	-1	-	c.1994A>G	p.N665S	non-syn	NA	-	-	lod=313:583	DAMAGING	P	-	het	1
13	17	10424731	T	C	ENST00000245503	ENSG00000125414	10424465	10453274	ENSP00000245503	MYH2	-1	MYH2_HUMAN	c.5692A>G	p.N1898D	non-syn	NA	-	-	lod=313:583	DAMAGING	P	-	het	1
14	17	10424731	T	C	ENST00000397183	ENSG00000125414	10424465	10453274	ENSP00000380367	MYH2	-1	MYH2_HUMAN	c.5692A>G	p.N1898D	non-syn	NA	-	-	lod=313:583	DAMAGING	P	-	het	1
15	17	10424731	T	C	ENST00000532183	ENSG00000125414	10424465	10453274	ENSP00000433944	MYH2	-1	-	c.1993A>G	p.N665D	non-syn	NA	-	-	lod=313:583	DAMAGING	P	-	het	1
16	17	10426473	C	G	ENST00000245503	ENSG00000125414	10424465	10453274	ENSP00000245503	MYH2	-1	MYH2_HUMAN	c.5607G>C	p.R1869S	non-syn	NA	-	G=0/C=8598;G=1/C=4403;G=1/C=13001	lod=180:524	DAMAGING	D	-	het	1
17	17	10426473	C	G	ENST00000397183	ENSG00000125414	10424465	10453274	ENSP00000380367	MYH2	-1	MYH2_HUMAN	c.5607G>C	p.R1869S	non-syn	NA	-	G=0/C=8598;G=1/C=4403;G=1/C=13001	lod=180:524	DAMAGING	D	-	het	1
18	17	10426647	C	A	ENST00000245503	ENSG00000125414	10424465	10453274	ENSP00000245503	MYH2	-1	MYH2_HUMAN	c.5555G>T	p.R1852L	non-syn	NA	-	-	lod=208:540	DAMAGING	P	-	het	4
19	17	10426647	C	A	ENST00000397183	ENSG00000125414	10424465	10453274	ENSP00000380367	MYH2	-1	MYH2_HUMAN	c.5555G>T	p.R1852L	non-syn	NA	-	-	lod=208:540	DAMAGING	P	-	het	4
20	17	10426939	G	A	ENST00000245503	ENSG00000125414	10424465	10453274	ENSP00000245503	MYH2	-1	MYH2_HUMAN	c.5346C>T	p.S1782S	syn	rs199864744	-	A=2/G=8594;A=0/G=4406;A=2/G=13000	lod=570:647	-	-	-	het	1

** 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 MYH2 17:10424465..10453274 region Gbrowse