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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 ALS2:

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
ENSG00000003393	ALS2	0	0	26	ENSG00000003393	ENST00000264276	ENSP00000264276	amyotrophic lateral sclerosis 2 (juvenile) [Source:HGNC Symbol;Acc:443]	2	202565277	202645912	-1	q33.1	202565277	202645912	ALS2	ALS2-001	HGNC Symbol	HGNC transcript name	13	38.06	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	57679	443	ALS2	NM_020919	27508

MSeqDR Master Exome Data Set M1: 305 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	2	202565355	G	C	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	NA	-	-	lod=252:560	-	-	-	het	3
2	2	202565372	G	A	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs41309068	0.0066	-	lod=252:560	-	-	-	het	3
3	2	202565570	C	T	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs11300	0.1512	-	-	-	-	-	het	120
4	2	202565570	C	T	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs11300	0.1512	-	-	-	-	-	hom	8
5	2	202565632	T	C	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs41309066	0.01093	-	-	-	-	-	hom	1
6	2	202565632	T	C	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs41309066	0.01093	-	-	-	-	-	het	25
7	2	202565681	G	A	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs3219174	0.1515	-	-	-	-	-	het	94
8	2	202565681	G	A	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs3219174	0.1515	-	-	-	-	-	hom	8
9	2	202565731	C	T	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs41309062	0.0145	-	-	-	-	-	het	4
10	2	202565796	T	C	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs186087319	0.0085	-	-	-	-	-	het	1
11	2	202565945	C	T	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	2	202566127	C	T	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs3219173	0.0191	-	lod=31:336	-	-	-	het	3
13	2	202566148	A	T	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
14	2	202566195	A	T	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs144613080	0.0226	-	lod=19:284	-	-	-	het	2
15	2	202566411	T	C	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	rs3219172	0.00841	-	-	-	-	-	het	20
16	2	202566411	T	C	ENST00000439495	ENSG00000003393	202565277	202645912	ENSP00000403832	ALS2	-1	-	-	-	3'_UTR	rs3219172	0.00841	-	-	-	-	-	het	20
17	2	202566411	T	C	ENST00000457679	ENSG00000003393	202565277	202645912	ENSP00000394823	ALS2	-1	-	-	-	3'_UTR	rs3219172	0.00841	-	-	-	-	-	het	20
18	2	202566428	T	C	ENST00000264276	ENSG00000003393	202565277	202645912	ENSP00000264276	ALS2	-1	ALS2_HUMAN	-	-	3'_UTR	NA	-	-	lod=35:349	-	-	-	het	1
19	2	202566428	T	C	ENST00000439495	ENSG00000003393	202565277	202645912	ENSP00000403832	ALS2	-1	-	-	-	3'_UTR	NA	-	-	lod=35:349	-	-	-	het	1
20	2	202566428	T	C	ENST00000457679	ENSG00000003393	202565277	202645912	ENSP00000394823	ALS2	-1	-	-	-	3'_UTR	NA	-	-	lod=35:349	-	-	-	het	1

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Transcripts and variants in the surrounding ALS2 2:202565277..202645912 region Gbrowse