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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 ATP2B2:

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
ENSG00000157087	ATP2B2	0	1	1	ENSG00000157087	ENST00000352432	ENSP00000324172	ATPase, Ca++ transporting, plasma membrane 2 [Source:HGNC Symbol;Acc:815]	3	10365707	10749716	-1	p25.3	10365707	10491297	ATP2B2	ATP2B2-001	HGNC Symbol	HGNC transcript name	10	49.6	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	491	815	ATP2B2		27517

MSeqDR Master Exome Data Set M1: 909 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	3	10365803	G	C	ENST00000343816	ENSG00000157087	10365707	10749716	ENSP00000344677	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs3776	0.0496	-	lod=164:514	-	-	-	het	40
2	3	10365803	G	C	ENST00000352432	ENSG00000157087	10365707	10749716	ENSP00000324172	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs3776	0.0496	-	lod=164:514	-	-	-	het	40
3	3	10365803	G	C	ENST00000360273	ENSG00000157087	10365707	10749716	ENSP00000353414	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs3776	0.0496	-	lod=164:514	-	-	-	het	40
4	3	10365803	G	C	ENST00000383800	ENSG00000157087	10365707	10749716	ENSP00000373311	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs3776	0.0496	-	lod=164:514	-	-	-	het	40
5	3	10365803	G	C	ENST00000397077	ENSG00000157087	10365707	10749716	ENSP00000380267	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs3776	0.0496	-	lod=164:514	-	-	-	het	40
6	3	10365803	G	C	ENST00000460129	ENSG00000157087	10365707	10749716	ENSP00000424494	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs3776	0.0496	-	lod=164:514	-	-	-	het	40
7	3	10365814	A	G	ENST00000343816	ENSG00000157087	10365707	10749716	ENSP00000344677	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs76001772	0.0262	-	lod=164:514	-	-	-	het	2
8	3	10365814	A	G	ENST00000352432	ENSG00000157087	10365707	10749716	ENSP00000324172	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs76001772	0.0262	-	lod=164:514	-	-	-	het	2
9	3	10365814	A	G	ENST00000360273	ENSG00000157087	10365707	10749716	ENSP00000353414	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs76001772	0.0262	-	lod=164:514	-	-	-	het	2
10	3	10365814	A	G	ENST00000383800	ENSG00000157087	10365707	10749716	ENSP00000373311	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs76001772	0.0262	-	lod=164:514	-	-	-	het	2
11	3	10365814	A	G	ENST00000397077	ENSG00000157087	10365707	10749716	ENSP00000380267	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs76001772	0.0262	-	lod=164:514	-	-	-	het	2
12	3	10365814	A	G	ENST00000460129	ENSG00000157087	10365707	10749716	ENSP00000424494	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	rs76001772	0.0262	-	lod=164:514	-	-	-	het	2
13	3	10365817	G	A	ENST00000343816	ENSG00000157087	10365707	10749716	ENSP00000344677	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	NA	-	-	lod=164:514	-	-	-	het	1
14	3	10365817	G	A	ENST00000352432	ENSG00000157087	10365707	10749716	ENSP00000324172	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	NA	-	-	lod=164:514	-	-	-	het	1
15	3	10365817	G	A	ENST00000360273	ENSG00000157087	10365707	10749716	ENSP00000353414	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	NA	-	-	lod=164:514	-	-	-	het	1
16	3	10365817	G	A	ENST00000383800	ENSG00000157087	10365707	10749716	ENSP00000373311	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	NA	-	-	lod=164:514	-	-	-	het	1
17	3	10365817	G	A	ENST00000397077	ENSG00000157087	10365707	10749716	ENSP00000380267	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	NA	-	-	lod=164:514	-	-	-	het	1
18	3	10365817	G	A	ENST00000460129	ENSG00000157087	10365707	10749716	ENSP00000424494	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	NA	-	-	lod=164:514	-	-	-	het	1
19	3	10365826	G	C	ENST00000343816	ENSG00000157087	10365707	10749716	ENSP00000344677	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	NA	-	-	lod=164:514	-	-	-	het	2
20	3	10365826	G	C	ENST00000343816	ENSG00000157087	10365707	10749716	ENSP00000344677	ATP2B2	-1	AT2B2_HUMAN	-	-	3'_UTR	NA	-	-	lod=164:514	-	-	-	hom	1

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Transcripts and variants in the surrounding ATP2B2 3:10365707..10749716 region Gbrowse