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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 APOC2:

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
ENSG00000234906	APOC2	0	0	0	ENSG00000234906	ENST00000592257	ENSP00000477261	apolipoprotein C-II [Source:HGNC Symbol;Acc:609]	19	45449243	45452822	1	q13.32	45449292	45452652	APOC2	APOC2-003	HGNC Symbol	HGNC transcript name	5	53.32	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	PUTATIVE	344	609	APOC2		27526

MSeqDR Master Exome Data Set M1: 41 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	19	45451620	T	A	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	5'_UTR	rs5120	0.55325	-	-	-	-	-	hom	264
2	19	45451620	T	A	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	5'_UTR	rs5120	0.55325	-	-	-	-	-	het	409
3	19	45451642	C	A	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	19	45451647	C	G	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	5'_UTR	rs7257095	0.1053	-	-	-	-	-	het	23
5	19	45451647	C	G	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	5'_UTR	rs7257095	0.1053	-	-	-	-	-	hom	1
6	19	45451648	C	G	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	5'_UTR	rs12709887	0.0111	-	-	-	-	-	het	7
7	19	45451656	T	G	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	5'_UTR	rs10422603	0.2749	-	-	-	-	-	het	212
8	19	45451656	T	G	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	5'_UTR	rs10422603	0.2749	-	-	-	-	-	hom	34
9	19	45451662	G	A	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	5'_UTR	rs12709888	0.0096	-	-	-	-	-	het	2
10	19	45451734	C	T	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	5'_UTR	rs5121	0.0168	T=0/C=8600;T=107/C=4299;T=107/C=12899	-	-	-	-	het	9
11	19	45451734	C	T	ENST00000590360	ENSG00000234906	45449243	45452822	ENSP00000466775	APOC2	1	APOC2_HUMAN	-	-	5'_UTR	rs5121	0.0168	T=0/C=8600;T=107/C=4299;T=107/C=12899	-	-	-	-	het	9
12	19	45451771	C	G	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	c.36C>G	p.V12V	syn	NA	-	-	-	-	-	-	het	1
13	19	45451771	C	G	ENST00000590360	ENSG00000234906	45449243	45452822	ENSP00000466775	APOC2	1	APOC2_HUMAN	c.36C>G	p.V12V	syn	NA	-	-	-	-	-	-	het	1
14	19	45451947	T	C	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
15	19	45451947	T	C	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	hom	1
16	19	45451947	T	C	ENST00000590360	ENSG00000234906	45449243	45452822	ENSP00000466775	APOC2	1	APOC2_HUMAN	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	het	2
17	19	45451947	T	C	ENST00000590360	ENSG00000234906	45449243	45452822	ENSP00000466775	APOC2	1	APOC2_HUMAN	-	-	-11bp 3'_splice_site	NA	-	-	-	-	-	-	hom	1
18	19	45451954	G	C	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	-	-	-4bp 3'_splice_site	rs74500990	0.0168	C=1/G=8599;C=162/G=4244;C=163/G=12843	lod=18:278	-	-	-	het	4
19	19	45451954	G	C	ENST00000590360	ENSG00000234906	45449243	45452822	ENSP00000466775	APOC2	1	APOC2_HUMAN	-	-	-4bp 3'_splice_site	rs74500990	0.0168	C=1/G=8599;C=162/G=4244;C=163/G=12843	lod=18:278	-	-	-	het	4
20	19	45452016	C	G	ENST00000585786	ENSG00000234906	45449243	45452822	ENSP00000465001	APOC2	1	-	c.114C>G	p.T38T	syn	NA	-	-	-	-	-	-	het	1

** 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 APOC2 19:45449243..45452822 region Gbrowse