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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 CYP2A6:

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
ENSG00000255974	CYP2A6	0	0	3	ENSG00000255974	ENST00000301141	ENSP00000301141	cytochrome P450, family 2, subfamily A, polypeptide 6 [Source:HGNC Symbol;Acc:2610]	19	41349443	41356352	-1	q13.2	41349443	41356352	CYP2A6	CYP2A6-001	HGNC Symbol	HGNC transcript name	4	53.42	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1548	2610	CYP2A6	NM_000762	27526

MSeqDR Master Exome Data Set M1: 194 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	41349517	G	C	ENST00000301141	ENSG00000255974	41349443	41356352	ENSP00000301141	CYP2A6	-1	CP2A6_HUMAN	-	-	3'_UTR	rs113777046	0.19413	-	-	-	-	-	het	12
2	19	41349517	G	C	ENST00000599960	ENSG00000255974	41349443	41356352	-	CYP2A6	-1	-	c.588C>G	p.S196R	non-syn	rs113777046	0.19413	-	-	-	-	-	het	12
3	19	41349519	T	A	ENST00000301141	ENSG00000255974	41349443	41356352	ENSP00000301141	CYP2A6	-1	CP2A6_HUMAN	-	-	3'_UTR	rs112026263	0.19129	-	-	-	-	-	het	16
4	19	41349519	T	A	ENST00000599960	ENSG00000255974	41349443	41356352	-	CYP2A6	-1	-	c.586A>T	p.S196C	non-syn	rs112026263	0.19129	-	-	-	-	-	het	16
5	19	41349530	T	G	ENST00000301141	ENSG00000255974	41349443	41356352	ENSP00000301141	CYP2A6	-1	CP2A6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	19	41349530	T	G	ENST00000599960	ENSG00000255974	41349443	41356352	-	CYP2A6	-1	-	c.575A>C	p.K192T	non-syn	NA	-	-	-	-	-	-	het	1
7	19	41349550	G	C	ENST00000301141	ENSG00000255974	41349443	41356352	ENSP00000301141	CYP2A6	-1	CP2A6_HUMAN	-	-	3'_UTR	rs8192733	0.4906	-	-	-	-	-	het	51
8	19	41349550	G	C	ENST00000301141	ENSG00000255974	41349443	41356352	ENSP00000301141	CYP2A6	-1	CP2A6_HUMAN	-	-	3'_UTR	rs8192733	0.4906	-	-	-	-	-	hom	39
9	19	41349550	G	C	ENST00000599960	ENSG00000255974	41349443	41356352	-	CYP2A6	-1	-	c.555C>G	p.S185R	non-syn	rs8192733	0.4906	-	-	-	-	-	het	51
10	19	41349550	G	C	ENST00000599960	ENSG00000255974	41349443	41356352	-	CYP2A6	-1	-	c.555C>G	p.S185R	non-syn	rs8192733	0.4906	-	-	-	-	-	hom	39
11	19	41349636	G	T	ENST00000301141	ENSG00000255974	41349443	41356352	ENSP00000301141	CYP2A6	-1	CP2A6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
12	19	41349636	G	T	ENST00000301141	ENSG00000255974	41349443	41356352	ENSP00000301141	CYP2A6	-1	CP2A6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	4
13	19	41349636	G	T	ENST00000599960	ENSG00000255974	41349443	41356352	-	CYP2A6	-1	-	c.469C>A	p.L157I	non-syn	NA	-	-	-	-	-	-	het	3
14	19	41349636	G	T	ENST00000599960	ENSG00000255974	41349443	41356352	-	CYP2A6	-1	-	c.469C>A	p.L157I	non-syn	NA	-	-	-	-	-	-	hom	4
15	19	41349640	G	C	ENST00000301141	ENSG00000255974	41349443	41356352	ENSP00000301141	CYP2A6	-1	CP2A6_HUMAN	-	-	3'_UTR	rs7248240	0.7197	-	-	-	-	-	het	54
16	19	41349640	G	C	ENST00000301141	ENSG00000255974	41349443	41356352	ENSP00000301141	CYP2A6	-1	CP2A6_HUMAN	-	-	3'_UTR	rs7248240	0.7197	-	-	-	-	-	hom	78
17	19	41349640	G	C	ENST00000599960	ENSG00000255974	41349443	41356352	-	CYP2A6	-1	-	c.465C>G	p.T155T	syn	rs7248240	0.7197	-	-	-	-	-	het	54
18	19	41349640	G	C	ENST00000599960	ENSG00000255974	41349443	41356352	-	CYP2A6	-1	-	c.465C>G	p.T155T	syn	rs7248240	0.7197	-	-	-	-	-	hom	78
19	19	41349678	A	C	ENST00000301141	ENSG00000255974	41349443	41356352	ENSP00000301141	CYP2A6	-1	CP2A6_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
20	19	41349678	A	C	ENST00000599960	ENSG00000255974	41349443	41356352	-	CYP2A6	-1	-	c.427T>G	p.S143A	non-syn	NA	-	-	-	-	-	-	het	3

** 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 CYP2A6 19:41349443..41356352 region Gbrowse