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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 KCNQ2:

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
ENSG00000075043	KCNQ2	1	6	269	ENSG00000075043	ENST00000357249	ENSP00000349789	potassium voltage-gated channel, KQT-like subfamily, member 2 [Source:HGNC Symbol;Acc:6296]	20	62037542	62103993	-1	q13.33	62037542	62103991	KCNQ2	KCNQ2-001	HGNC Symbol	HGNC transcript name	10	62.2	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3785	6296	KCNQ2	NM_172106	27522

MSeqDR Master Exome Data Set M1: 573 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	20	62037576	G	A	ENST00000354587	ENSG00000075043	62037542	62103993	ENSP00000346601	KCNQ2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	20	62037576	G	A	ENST00000357249	ENSG00000075043	62037542	62103993	ENSP00000349789	KCNQ2	-1	KCNQ2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	20	62037576	G	A	ENST00000359125	ENSG00000075043	62037542	62103993	ENSP00000352035	KCNQ2	-1	KCNQ2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
4	20	62037576	G	A	ENST00000359689	ENSG00000075043	62037542	62103993	ENSP00000352718	KCNQ2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
5	20	62037576	G	A	ENST00000370226	ENSG00000075043	62037542	62103993	ENSP00000359246	KCNQ2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
6	20	62037576	G	A	ENST00000430658	ENSG00000075043	62037542	62103993	ENSP00000399612	KCNQ2	-1	KCNQ2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
7	20	62037584	C	T	ENST00000354587	ENSG00000075043	62037542	62103993	ENSP00000346601	KCNQ2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	20	62037584	C	T	ENST00000357249	ENSG00000075043	62037542	62103993	ENSP00000349789	KCNQ2	-1	KCNQ2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	20	62037584	C	T	ENST00000359125	ENSG00000075043	62037542	62103993	ENSP00000352035	KCNQ2	-1	KCNQ2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	20	62037584	C	T	ENST00000359689	ENSG00000075043	62037542	62103993	ENSP00000352718	KCNQ2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	20	62037584	C	T	ENST00000370226	ENSG00000075043	62037542	62103993	ENSP00000359246	KCNQ2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	20	62037584	C	T	ENST00000430658	ENSG00000075043	62037542	62103993	ENSP00000399612	KCNQ2	-1	KCNQ2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	20	62037642	A	-C	ENST00000354587	ENSG00000075043	62037542	62103993	ENSP00000346601	KCNQ2	-1	-	-	-	3'_UTR	rs149285757	-	-	-	-	-	-	het	2
14	20	62037642	A	-C	ENST00000357249	ENSG00000075043	62037542	62103993	ENSP00000349789	KCNQ2	-1	KCNQ2_HUMAN	-	-	3'_UTR	rs149285757	-	-	-	-	-	-	het	2
15	20	62037642	A	-C	ENST00000359125	ENSG00000075043	62037542	62103993	ENSP00000352035	KCNQ2	-1	KCNQ2_HUMAN	-	-	3'_UTR	rs149285757	-	-	-	-	-	-	het	2
16	20	62037642	A	-C	ENST00000359689	ENSG00000075043	62037542	62103993	ENSP00000352718	KCNQ2	-1	-	-	-	3'_UTR	rs149285757	-	-	-	-	-	-	het	2
17	20	62037642	A	-C	ENST00000370226	ENSG00000075043	62037542	62103993	ENSP00000359246	KCNQ2	-1	-	-	-	3'_UTR	rs149285757	-	-	-	-	-	-	het	2
18	20	62037642	A	-C	ENST00000430658	ENSG00000075043	62037542	62103993	ENSP00000399612	KCNQ2	-1	KCNQ2_HUMAN	-	-	3'_UTR	rs149285757	-	-	-	-	-	-	het	2
19	20	62037702	G	A	ENST00000354587	ENSG00000075043	62037542	62103993	ENSP00000346601	KCNQ2	-1	-	-	-	3'_UTR	rs34690549	0.0752	-	-	-	-	-	het	63
20	20	62037702	G	A	ENST00000354587	ENSG00000075043	62037542	62103993	ENSP00000346601	KCNQ2	-1	-	-	-	3'_UTR	rs34690549	0.0752	-	-	-	-	-	hom	5

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
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Transcripts and variants in the surrounding KCNQ2 20:62037542..62103993 region Gbrowse