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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 ATXN2:

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
ENSG00000204842	ATXN2	1	0	7	ENSG00000204842	ENST00000550889		ataxin 2 [Source:HGNC Symbol;Acc:10555]	12	111890018	112037480	-1	q24.12	111894025	111909749	ATXN2	ATXN2-023	HGNC Symbol	HGNC transcript name	26	41.99	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	6311	10555	ATXN2		27519

MSeqDR Master Exome Data Set M1: 398 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	12	111890146	T	C	ENST00000377617	ENSG00000204842	111890018	112037480	ENSP00000366843	ATXN2	-1	ATX2_HUMAN	-	-	3'_UTR	rs117066377	0.038	-	lod=1103:718	-	-	-	het	4
2	12	111890146	T	C	ENST00000389153	ENSG00000204842	111890018	112037480	ENSP00000373805	ATXN2	-1	-	-	-	3'_UTR	rs117066377	0.038	-	lod=1103:718	-	-	-	het	4
3	12	111890146	T	C	ENST00000389154	ENSG00000204842	111890018	112037480	ENSP00000373806	ATXN2	-1	-	-	-	3'_UTR	rs117066377	0.038	-	lod=1103:718	-	-	-	het	4
4	12	111890146	T	C	ENST00000483311	ENSG00000204842	111890018	112037480	ENSP00000446512	ATXN2	-1	-	-	-	3'_UTR	rs117066377	0.038	-	lod=1103:718	-	-	-	het	4
5	12	111890146	T	C	ENST00000550104	ENSG00000204842	111890018	112037480	ENSP00000446576	ATXN2	-1	ATX2_HUMAN	-	-	3'_UTR	rs117066377	0.038	-	lod=1103:718	-	-	-	het	4
6	12	111890233	A	-T	ENST00000377617	ENSG00000204842	111890018	112037480	ENSP00000366843	ATXN2	-1	ATX2_HUMAN	-	-	3'_UTR	rs11348701	-	-	lod=109:471	-	-	-	het	21
7	12	111890233	A	-T	ENST00000377617	ENSG00000204842	111890018	112037480	ENSP00000366843	ATXN2	-1	ATX2_HUMAN	-	-	3'_UTR	rs11348701	-	-	lod=109:471	-	-	-	hom	1
8	12	111890233	A	-T	ENST00000389153	ENSG00000204842	111890018	112037480	ENSP00000373805	ATXN2	-1	-	-	-	3'_UTR	rs11348701	-	-	lod=109:471	-	-	-	het	21
9	12	111890233	A	-T	ENST00000389153	ENSG00000204842	111890018	112037480	ENSP00000373805	ATXN2	-1	-	-	-	3'_UTR	rs11348701	-	-	lod=109:471	-	-	-	hom	1
10	12	111890233	A	-T	ENST00000389154	ENSG00000204842	111890018	112037480	ENSP00000373806	ATXN2	-1	-	-	-	3'_UTR	rs11348701	-	-	lod=109:471	-	-	-	het	21
11	12	111890233	A	-T	ENST00000389154	ENSG00000204842	111890018	112037480	ENSP00000373806	ATXN2	-1	-	-	-	3'_UTR	rs11348701	-	-	lod=109:471	-	-	-	hom	1
12	12	111890233	A	-T	ENST00000483311	ENSG00000204842	111890018	112037480	ENSP00000446512	ATXN2	-1	-	-	-	3'_UTR	rs11348701	-	-	lod=109:471	-	-	-	het	21
13	12	111890233	A	-T	ENST00000483311	ENSG00000204842	111890018	112037480	ENSP00000446512	ATXN2	-1	-	-	-	3'_UTR	rs11348701	-	-	lod=109:471	-	-	-	hom	1
14	12	111890233	A	-T	ENST00000550104	ENSG00000204842	111890018	112037480	ENSP00000446576	ATXN2	-1	ATX2_HUMAN	-	-	3'_UTR	rs11348701	-	-	lod=109:471	-	-	-	het	21
15	12	111890233	A	-T	ENST00000550104	ENSG00000204842	111890018	112037480	ENSP00000446576	ATXN2	-1	ATX2_HUMAN	-	-	3'_UTR	rs11348701	-	-	lod=109:471	-	-	-	hom	1
16	12	111890233	A	-TT	ENST00000377617	ENSG00000204842	111890018	112037480	ENSP00000366843	ATXN2	-1	ATX2_HUMAN	-	-	3'_UTR	NA	-	-	lod=109:471	-	-	-	het	11
17	12	111890233	A	-TT	ENST00000389153	ENSG00000204842	111890018	112037480	ENSP00000373805	ATXN2	-1	-	-	-	3'_UTR	NA	-	-	lod=109:471	-	-	-	het	11
18	12	111890233	A	-TT	ENST00000389154	ENSG00000204842	111890018	112037480	ENSP00000373806	ATXN2	-1	-	-	-	3'_UTR	NA	-	-	lod=109:471	-	-	-	het	11
19	12	111890233	A	-TT	ENST00000483311	ENSG00000204842	111890018	112037480	ENSP00000446512	ATXN2	-1	-	-	-	3'_UTR	NA	-	-	lod=109:471	-	-	-	het	11
20	12	111890233	A	-TT	ENST00000550104	ENSG00000204842	111890018	112037480	ENSP00000446576	ATXN2	-1	ATX2_HUMAN	-	-	3'_UTR	NA	-	-	lod=109:471	-	-	-	het	11

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Transcripts and variants in the surrounding ATXN2 12:111890018..112037480 region Gbrowse