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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 COL11A2:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	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
ENSG00000204248	COL11A2	1	120	ENSG00000204248	ENST00000361917	ENSP00000355123	collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]	6	33130458	33160276	-1	p21.32	33130469	33160245	COL11A2	COL11A2-203	HGNC Symbol	HGNC transcript name	11	56.6	protein_coding	protein_coding	ensembl_hava	ensembl	KNOWN	KNOWN	1302	2187	COL11A2	NM_080679	27515
ENSG00000227801	COL11A2	1	120	ENSG00000227801	ENST00000383087	ENSP00000372565	collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]	HSCHR6_MHC_COX	33052091	33081908	-1	p21.32	33052091	33081908	COL11A2	COL11A2-001	HGNC Symbol	HGNC transcript name	12	56.58	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1302	2187	COL11A2		27796
ENSG00000230930	COL11A2	1	120	ENSG00000230930	ENST00000438711	ENSP00000398256	collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]	HSCHR6_MHC_DBB	33108368	33138186	-1	p21.32	33123819	33138154	COL11A2	COL11A2-002	HGNC Symbol	HGNC transcript name	12	56.61	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1302	2187	COL11A2		27797
ENSG00000223699	COL11A2	1	120	ENSG00000223699	ENST00000425729	ENSP00000408123	collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]	HSCHR6_MHC_MANN	33284377	33314194	-1	p21.32	33284377	33314194	COL11A2	COL11A2-001	HGNC Symbol	HGNC transcript name	12	56.58	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1302	2187	COL11A2		27798
ENSG00000235708	COL11A2	1	120	ENSG00000235708	ENST00000496392		collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]	HSCHR6_MHC_MCF	33300827	33330643	-1	p21.32	33300841	33316038	COL11A2	COL11A2-004	HGNC Symbol	HGNC transcript name	12	56.58	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	1302	2187	COL11A2		27799
ENSG00000206290	COL11A2	1	120	ENSG00000206290	ENST00000433947	ENSP00000388108	collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]	HSCHR6_MHC_QBL	33059284	33089101	-1	p21.32	33059298	33074496	COL11A2	COL11A2-004	HGNC Symbol	HGNC transcript name	12	56.58	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1302	2187	COL11A2		27800
ENSG00000232541	COL11A2	1	120	ENSG00000232541	ENST00000486982		collagen, type XI, alpha 2 [Source:HGNC Symbol;Acc:2187]	HSCHR6_MHC_SSTO	33269767	33296554	-1	p21.32	33269781	33284978	COL11A2	COL11A2-004	HGNC Symbol	HGNC transcript name	6	56.59	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	1302	2187	COL11A2		27801

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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