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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 CDKN2A:

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
ENSG00000147889	CDKN2A	0	0	134	ENSG00000147889	ENST00000494262	ENSP00000464952	cyclin-dependent kinase inhibitor 2A [Source:HGNC Symbol;Acc:1787]	9	21967751	21995300	-1	p21.3	21968181	21995268	CDKN2A	CDKN2A-005	HGNC Symbol	HGNC transcript name	17	41.19	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	1029	1787	CDKN2A		27518

MSeqDR Master Exome Data Set M1: 239 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	21967855	G	C	ENST00000304494	ENSG00000147889	21967751	21995300	ENSP00000307101	CDKN2A	-1	CD2A1_HUMAN	-	-	3'_UTR	rs3731255	0.0601	-	-	-	-	-	het	2
2	9	21967855	G	C	ENST00000361570	ENSG00000147889	21967751	21995300	ENSP00000355153	CDKN2A	-1	CD2A2_HUMAN	-	-	3'_UTR	rs3731255	0.0601	-	-	-	-	-	het	2
3	9	21967855	G	C	ENST00000579755	ENSG00000147889	21967751	21995300	ENSP00000462950	CDKN2A	-1	CD2A2_HUMAN	-	-	3'_UTR	rs3731255	0.0601	-	-	-	-	-	het	2
4	9	21967865	T	C	ENST00000304494	ENSG00000147889	21967751	21995300	ENSP00000307101	CDKN2A	-1	CD2A1_HUMAN	-	-	3'_UTR	rs140204814	0.025	-	-	-	-	-	het	2
5	9	21967865	T	C	ENST00000361570	ENSG00000147889	21967751	21995300	ENSP00000355153	CDKN2A	-1	CD2A2_HUMAN	-	-	3'_UTR	rs140204814	0.025	-	-	-	-	-	het	2
6	9	21967865	T	C	ENST00000579755	ENSG00000147889	21967751	21995300	ENSP00000462950	CDKN2A	-1	CD2A2_HUMAN	-	-	3'_UTR	rs140204814	0.025	-	-	-	-	-	het	2
7	9	21967967	A	G	ENST00000304494	ENSG00000147889	21967751	21995300	ENSP00000307101	CDKN2A	-1	CD2A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	9	21967967	A	G	ENST00000361570	ENSG00000147889	21967751	21995300	ENSP00000355153	CDKN2A	-1	CD2A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	9	21967967	A	G	ENST00000579755	ENSG00000147889	21967751	21995300	ENSP00000462950	CDKN2A	-1	CD2A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	9	21968101	G	C	ENST00000304494	ENSG00000147889	21967751	21995300	ENSP00000307101	CDKN2A	-1	CD2A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	9	21968101	G	C	ENST00000361570	ENSG00000147889	21967751	21995300	ENSP00000355153	CDKN2A	-1	CD2A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	9	21968101	G	C	ENST00000498124	ENSG00000147889	21967751	21995300	ENSP00000418915	CDKN2A	-1	CD2A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	9	21968101	G	C	ENST00000530628	ENSG00000147889	21967751	21995300	ENSP00000432664	CDKN2A	-1	CD2A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	9	21968101	G	C	ENST00000578845	ENSG00000147889	21967751	21995300	ENSP00000467390	CDKN2A	-1	CD2A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	9	21968101	G	C	ENST00000579122	ENSG00000147889	21967751	21995300	ENSP00000464202	CDKN2A	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	9	21968101	G	C	ENST00000579755	ENSG00000147889	21967751	21995300	ENSP00000462950	CDKN2A	-1	CD2A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
17	9	21968133	G	A	ENST00000304494	ENSG00000147889	21967751	21995300	ENSP00000307101	CDKN2A	-1	CD2A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
18	9	21968133	G	A	ENST00000361570	ENSG00000147889	21967751	21995300	ENSP00000355153	CDKN2A	-1	CD2A2_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	9	21968133	G	A	ENST00000498124	ENSG00000147889	21967751	21995300	ENSP00000418915	CDKN2A	-1	CD2A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
20	9	21968133	G	A	ENST00000498628	ENSG00000147889	21967751	21995300	ENSP00000467857	CDKN2A	-1	CD2A1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding CDKN2A 9:21967751..21995300 region Gbrowse