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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 ITGA2B:

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
ENSG00000005961	ITGA2B	0	0	12	ENSG00000005961	ENST00000588098	ENSP00000465534	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) [Source:HGNC Symbol;Acc:6138]	17	42449548	42466873	-1	q21.31	42449548	42452063	ITGA2B	ITGA2B-012	HGNC Symbol	HGNC transcript name	12	54.83	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	3674	6138	ITGA2B		27509

MSeqDR Master Exome Data Set M1: 157 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	42449680	C	T	ENST00000262407	ENSG00000005961	42449548	42466873	ENSP00000262407	ITGA2B	-1	ITA2B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
2	17	42449680	C	T	ENST00000262407	ENSG00000005961	42449548	42466873	ENSP00000262407	ITGA2B	-1	ITA2B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
3	17	42449680	C	T	ENST00000353281	ENSG00000005961	42449548	42466873	ENSP00000340536	ITGA2B	-1	ITA2B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
4	17	42449680	C	T	ENST00000353281	ENSG00000005961	42449548	42466873	ENSP00000340536	ITGA2B	-1	ITA2B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
5	17	42449680	C	T	ENST00000587295	ENSG00000005961	42449548	42466873	ENSP00000467269	ITGA2B	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
6	17	42449680	C	T	ENST00000587295	ENSG00000005961	42449548	42466873	ENSP00000467269	ITGA2B	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
7	17	42449680	C	T	ENST00000588098	ENSG00000005961	42449548	42466873	ENSP00000465534	ITGA2B	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
8	17	42449680	C	T	ENST00000588098	ENSG00000005961	42449548	42466873	ENSP00000465534	ITGA2B	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
9	17	42449758	C	+CA	ENST00000262407	ENSG00000005961	42449548	42466873	ENSP00000262407	ITGA2B	-1	ITA2B_HUMAN	c.3093_3094insTG	p.E1032NA	non-syn	NA	-	-	lod=82:440	-	-	HGMD	het	6
10	17	42449758	C	+CA	ENST00000353281	ENSG00000005961	42449548	42466873	ENSP00000340536	ITGA2B	-1	ITA2B_HUMAN	c.2991_2992insTG	p.E998NA	non-syn	NA	-	-	lod=82:440	-	-	HGMD	het	6
11	17	42449758	C	+CA	ENST00000587295	ENSG00000005961	42449548	42466873	ENSP00000467269	ITGA2B	-1	-	c.286_287insTG	p.G96NA	non-syn	NA	-	-	lod=82:440	-	-	HGMD	het	6
12	17	42449758	C	+CA	ENST00000588098	ENSG00000005961	42449548	42466873	ENSP00000465534	ITGA2B	-1	-	c.70_71insTG	p.G24NA	non-syn	NA	-	-	lod=82:440	-	-	HGMD	het	6
13	17	42449789	G	A	ENST00000262407	ENSG00000005961	42449548	42466873	ENSP00000262407	ITGA2B	-1	ITA2B_HUMAN	c.3063C>T	p.V1021V	syn	rs5910	0.3938	A=3246/G=5354;A=1728/G=2678;A=4974/G=8032	-	-	-	-	het	441
14	17	42449789	G	A	ENST00000262407	ENSG00000005961	42449548	42466873	ENSP00000262407	ITGA2B	-1	ITA2B_HUMAN	c.3063C>T	p.V1021V	syn	rs5910	0.3938	A=3246/G=5354;A=1728/G=2678;A=4974/G=8032	-	-	-	-	hom	167
15	17	42449789	G	A	ENST00000353281	ENSG00000005961	42449548	42466873	ENSP00000340536	ITGA2B	-1	ITA2B_HUMAN	c.2961C>T	p.V987V	syn	rs5910	0.3938	A=3246/G=5354;A=1728/G=2678;A=4974/G=8032	-	-	-	-	het	441
16	17	42449789	G	A	ENST00000353281	ENSG00000005961	42449548	42466873	ENSP00000340536	ITGA2B	-1	ITA2B_HUMAN	c.2961C>T	p.V987V	syn	rs5910	0.3938	A=3246/G=5354;A=1728/G=2678;A=4974/G=8032	-	-	-	-	hom	167
17	17	42449789	G	A	ENST00000587295	ENSG00000005961	42449548	42466873	ENSP00000467269	ITGA2B	-1	-	c.256C>T	p.R86W	non-syn	rs5910	0.3938	A=3246/G=5354;A=1728/G=2678;A=4974/G=8032	-	-	-	-	het	441
18	17	42449789	G	A	ENST00000587295	ENSG00000005961	42449548	42466873	ENSP00000467269	ITGA2B	-1	-	c.256C>T	p.R86W	non-syn	rs5910	0.3938	A=3246/G=5354;A=1728/G=2678;A=4974/G=8032	-	-	-	-	hom	167
19	17	42449789	G	A	ENST00000588098	ENSG00000005961	42449548	42466873	ENSP00000465534	ITGA2B	-1	-	c.40C>T	p.R14W	non-syn	rs5910	0.3938	A=3246/G=5354;A=1728/G=2678;A=4974/G=8032	-	-	-	-	het	441
20	17	42449789	G	A	ENST00000588098	ENSG00000005961	42449548	42466873	ENSP00000465534	ITGA2B	-1	-	c.40C>T	p.R14W	non-syn	rs5910	0.3938	A=3246/G=5354;A=1728/G=2678;A=4974/G=8032	-	-	-	-	hom	167

** 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 ITGA2B 17:42449548..42466873 region Gbrowse