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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 ENSG00000232541:

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
ENSG00000232541	COL11A2	1	0	120	ENSG00000232541	ENST00000443138	ENSP00000404513	collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]	HSCHR6_MHC_SSTO	33269767	33296554	-1	p21.32	33269767	33296553	COL11A2	COL11A2-001	HGNC Symbol	HGNC transcript name	6	56.59	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1302	2187	COL11A2		27801

MSeqDR Master Exome Data Set M1: 838 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	6	33130656	A	C	ENST00000341947	ENSG00000204248	33130458	33160276	ENSP00000339915	COL11A2	-1	COBA2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
2	6	33130656	A	C	ENST00000357486	ENSG00000204248	33130458	33160276	ENSP00000350079	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
3	6	33130656	A	C	ENST00000361917	ENSG00000204248	33130458	33160276	ENSP00000355123	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
4	6	33130656	A	C	ENST00000374708	ENSG00000204248	33130458	33160276	ENSP00000363840	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
5	6	33130656	A	C	ENST00000374712	ENSG00000204248	33130458	33160276	ENSP00000363844	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
6	6	33130656	A	C	ENST00000374713	ENSG00000204248	33130458	33160276	ENSP00000363845	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
7	6	33130656	A	C	ENST00000374714	ENSG00000204248	33130458	33160276	ENSP00000363846	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
8	6	33130656	A	C	ENST00000395197	ENSG00000204248	33130458	33160276	ENSP00000378623	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
9	6	33130656	A	C	ENST00000477772	ENSG00000204248	33130458	33160276	-	COL11A2	-1	-	c.1800T>G	p.G600G	syn	NA	-	-	-	-	-	-	het	9
10	6	33130866	G	A	ENST00000341947	ENSG00000204248	33130458	33160276	ENSP00000339915	COL11A2	-1	COBA2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	6	33130866	G	A	ENST00000357486	ENSG00000204248	33130458	33160276	ENSP00000350079	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	6	33130866	G	A	ENST00000361917	ENSG00000204248	33130458	33160276	ENSP00000355123	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
13	6	33130866	G	A	ENST00000374708	ENSG00000204248	33130458	33160276	ENSP00000363840	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
14	6	33130866	G	A	ENST00000374712	ENSG00000204248	33130458	33160276	ENSP00000363844	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	6	33130866	G	A	ENST00000374713	ENSG00000204248	33130458	33160276	ENSP00000363845	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
16	6	33130866	G	A	ENST00000374714	ENSG00000204248	33130458	33160276	ENSP00000363846	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
17	6	33130866	G	A	ENST00000395197	ENSG00000204248	33130458	33160276	ENSP00000378623	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
18	6	33130866	G	A	ENST00000477772	ENSG00000204248	33130458	33160276	-	COL11A2	-1	-	c.1590C>T	p.D530D	syn	NA	-	-	-	-	-	-	het	2
19	6	33131006	C	A	ENST00000341947	ENSG00000204248	33130458	33160276	ENSP00000339915	COL11A2	-1	COBA2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	6	33131006	C	A	ENST00000357486	ENSG00000204248	33130458	33160276	ENSP00000350079	COL11A2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding COL11A2 6:33130458..33160276 region Gbrowse