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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 FBN2:

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
ENSG00000138829	FBN2	0	0	337	ENSG00000138829	ENST00000508053	ENSP00000424571	fibrillin 2 [Source:HGNC Symbol;Acc:3604]	5	127593601	127994878	-1	q23.3	127593729	127994878	FBN2	FBN2-001	HGNC Symbol	HGNC transcript name	7	37.12	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	2201	3604	FBN2		27527

MSeqDR Master Exome Data Set M1: 514 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	5	127593725	C	+T	ENST00000262464	ENSG00000138829	127593601	127994878	ENSP00000262464	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs143731656	-	-	-	-	-	-	het	2
2	5	127593725	C	+TT	ENST00000262464	ENSG00000138829	127593601	127994878	ENSP00000262464	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	5	127593732	C	T	ENST00000262464	ENSG00000138829	127593601	127994878	ENSP00000262464	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs1050687	-	-	lod=20:289	-	-	-	het	5
4	5	127593732	C	T	ENST00000262464	ENSG00000138829	127593601	127994878	ENSP00000262464	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs1050687	-	-	lod=20:289	-	-	-	hom	9
5	5	127593732	C	T	ENST00000508053	ENSG00000138829	127593601	127994878	ENSP00000424571	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs1050687	-	-	lod=20:289	-	-	-	het	5
6	5	127593732	C	T	ENST00000508053	ENSG00000138829	127593601	127994878	ENSP00000424571	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs1050687	-	-	lod=20:289	-	-	-	hom	9
7	5	127593870	C	T	ENST00000262464	ENSG00000138829	127593601	127994878	ENSP00000262464	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs7288	0.12247	-	lod=68:420	-	-	-	hom	15
8	5	127593870	C	T	ENST00000262464	ENSG00000138829	127593601	127994878	ENSP00000262464	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs7288	0.12247	-	lod=68:420	-	-	-	het	137
9	5	127593870	C	T	ENST00000508053	ENSG00000138829	127593601	127994878	ENSP00000424571	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs7288	0.12247	-	lod=68:420	-	-	-	hom	15
10	5	127593870	C	T	ENST00000508053	ENSG00000138829	127593601	127994878	ENSP00000424571	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs7288	0.12247	-	lod=68:420	-	-	-	het	137
11	5	127593956	G	A	ENST00000262464	ENSG00000138829	127593601	127994878	ENSP00000262464	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	NA	-	-	lod=299:578	-	-	-	het	5
12	5	127593956	G	A	ENST00000508053	ENSG00000138829	127593601	127994878	ENSP00000424571	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	NA	-	-	lod=299:578	-	-	-	het	5
13	5	127594015	T	C	ENST00000262464	ENSG00000138829	127593601	127994878	ENSP00000262464	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs77373296	0.0196	-	lod=299:578	-	-	-	het	2
14	5	127594015	T	C	ENST00000508053	ENSG00000138829	127593601	127994878	ENSP00000424571	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs77373296	0.0196	-	lod=299:578	-	-	-	het	2
15	5	127594063	T	+A	ENST00000262464	ENSG00000138829	127593601	127994878	ENSP00000262464	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	NA	-	-	lod=181:525	-	-	-	het	1
16	5	127594063	T	+A	ENST00000508053	ENSG00000138829	127593601	127994878	ENSP00000424571	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	NA	-	-	lod=181:525	-	-	-	het	1
17	5	127594328	T	C	ENST00000262464	ENSG00000138829	127593601	127994878	ENSP00000262464	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs72783099	0.04603	-	lod=463:625	-	-	-	het	56
18	5	127594328	T	C	ENST00000262464	ENSG00000138829	127593601	127994878	ENSP00000262464	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs72783099	0.04603	-	lod=463:625	-	-	-	hom	2
19	5	127594328	T	C	ENST00000508053	ENSG00000138829	127593601	127994878	ENSP00000424571	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs72783099	0.04603	-	lod=463:625	-	-	-	het	56
20	5	127594328	T	C	ENST00000508053	ENSG00000138829	127593601	127994878	ENSP00000424571	FBN2	-1	FBN2_HUMAN	-	-	3'_UTR	rs72783099	0.04603	-	lod=463:625	-	-	-	hom	2

** 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 FBN2 5:127593601..127994878 region Gbrowse