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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 NPR2:

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
ENSG00000159899	NPR2	0	0	14	ENSG00000159899	ENST00000342694	ENSP00000341083	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) [Source:HGNC Symbol;Acc:7944]	9	35792151	35809729	1	p13.3	35792151	35809729	NPR2	NPR2-001	HGNC Symbol	HGNC transcript name	6	48.3	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4882	7944	NPR2	NM_003995	27518

MSeqDR Master Exome Data Set M1: 78 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	9	35792188	C	T	ENST00000342694	ENSG00000159899	35792151	35809729	ENSP00000341083	NPR2	1	ANPRB_HUMAN	-	-	5'_UTR	rs180732011	0.0714	T=1/C=3181;T=114/C=1270;T=115/C=4451	-	-	-	-	het	2
2	9	35792423	T	C	ENST00000342694	ENSG00000159899	35792151	35809729	ENSP00000341083	NPR2	1	ANPRB_HUMAN	c.18T>C	p.L6L	syn	rs2228580	0.434	C=1743/T=6853;C=2004/T=2400;C=3747/T=9253	lod=188:529	-	-	-	het	284
3	9	35792423	T	C	ENST00000342694	ENSG00000159899	35792151	35809729	ENSP00000341083	NPR2	1	ANPRB_HUMAN	c.18T>C	p.L6L	syn	rs2228580	0.434	C=1743/T=6853;C=2004/T=2400;C=3747/T=9253	lod=188:529	-	-	-	hom	49
4	9	35792423	T	C	ENST00000464810	ENSG00000159899	35792151	35809729	-	NPR2	1	-	c.18T>C	p.L6L	syn	rs2228580	0.434	C=1743/T=6853;C=2004/T=2400;C=3747/T=9253	lod=188:529	-	-	-	het	284
5	9	35792423	T	C	ENST00000464810	ENSG00000159899	35792151	35809729	-	NPR2	1	-	c.18T>C	p.L6L	syn	rs2228580	0.434	C=1743/T=6853;C=2004/T=2400;C=3747/T=9253	lod=188:529	-	-	-	hom	49
6	9	35792495	G	A	ENST00000342694	ENSG00000159899	35792151	35809729	ENSP00000341083	NPR2	1	ANPRB_HUMAN	c.90G>A	p.V30V	syn	rs56036598	-	A=11/G=8585;A=1/G=4405;A=12/G=12990	lod=516:637	-	-	-	het	2
7	9	35792495	G	A	ENST00000464810	ENSG00000159899	35792151	35809729	-	NPR2	1	-	c.90G>A	p.V30V	syn	rs56036598	-	A=11/G=8585;A=1/G=4405;A=12/G=12990	lod=516:637	-	-	-	het	2
8	9	35792898	C	T	ENST00000342694	ENSG00000159899	35792151	35809729	ENSP00000341083	NPR2	1	ANPRB_HUMAN	c.493C>T	p.R165C	non-syn	NA	-	-	lod=14:251	DAMAGING	D	-	het	1
9	9	35792898	C	T	ENST00000464810	ENSG00000159899	35792151	35809729	-	NPR2	1	-	c.493C>T	p.R165C	non-syn	NA	-	-	lod=14:251	DAMAGING	D	-	het	1
10	9	35793908	C	T	ENST00000342694	ENSG00000159899	35792151	35809729	ENSP00000341083	NPR2	1	ANPRB_HUMAN	c.681C>T	p.C227C	syn	NA	-	-	lod=444:621	-	-	-	het	1
11	9	35793908	C	T	ENST00000464810	ENSG00000159899	35792151	35809729	-	NPR2	1	-	c.681C>T	p.C227C	syn	NA	-	-	lod=444:621	-	-	-	het	1
12	9	35793924	C	T	ENST00000342694	ENSG00000159899	35792151	35809729	ENSP00000341083	NPR2	1	ANPRB_HUMAN	c.697C>T	p.L233L	syn	rs61758518	0.00295	T=4/C=8596;T=0/C=4406;T=4/C=13002	lod=444:621	-	-	-	het	6
13	9	35793924	C	T	ENST00000464810	ENSG00000159899	35792151	35809729	-	NPR2	1	-	c.697C>T	p.L233L	syn	rs61758518	0.00295	T=4/C=8596;T=0/C=4406;T=4/C=13002	lod=444:621	-	-	-	het	6
14	9	35794041	C	T	ENST00000342694	ENSG00000159899	35792151	35809729	ENSP00000341083	NPR2	1	ANPRB_HUMAN	c.814C>T	p.R272W	non-syn	rs61758519	-	-	lod=187:528	DAMAGING	D	-	het	2
15	9	35794041	C	T	ENST00000464810	ENSG00000159899	35792151	35809729	-	NPR2	1	-	c.814C>T	p.R272W	non-syn	rs61758519	-	-	lod=187:528	DAMAGING	D	-	het	2
16	9	35794065	C	T	ENST00000342694	ENSG00000159899	35792151	35809729	ENSP00000341083	NPR2	1	ANPRB_HUMAN	c.838C>T	p.R280W	non-syn	NA	-	-	lod=187:528	TOLERATED	B	-	het	5
17	9	35794065	C	T	ENST00000464810	ENSG00000159899	35792151	35809729	-	NPR2	1	-	c.838C>T	p.R280W	non-syn	NA	-	-	lod=187:528	TOLERATED	B	-	het	5
18	9	35794113	C	A	ENST00000342694	ENSG00000159899	35792151	35809729	ENSP00000341083	NPR2	1	ANPRB_HUMAN	-	-	+13bp 5'_splice_site	rs61758520	0.00485	A=47/C=8553;A=4/C=4398;A=51/C=12951	-	-	-	-	het	2
19	9	35794113	C	A	ENST00000464810	ENSG00000159899	35792151	35809729	-	NPR2	1	-	-	-	+13bp 5'_splice_site	rs61758520	0.00485	A=47/C=8553;A=4/C=4398;A=51/C=12951	-	-	-	-	het	2
20	9	35799744	C	T	ENST00000342694	ENSG00000159899	35792151	35809729	ENSP00000341083	NPR2	1	ANPRB_HUMAN	-	-	+16bp 5'_splice_site	NA	-	-	-	-	-	-	het	4

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Transcripts and variants in the surrounding NPR2 9:35792151..35809729 region Gbrowse