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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 GABRA2:

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
ENSG00000151834	GABRA2	0	0	3	ENSG00000151834	ENST00000510861	ENSP00000421828	gamma-aminobutyric acid (GABA) A receptor, alpha 2 [Source:HGNC Symbol;Acc:4076]	4	46250444	46477247	-1	p12	46250444	46477247	GABRA2	GABRA2-005	HGNC Symbol	HGNC transcript name	15	35.63	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	2555	4076	GABRA2		27524

MSeqDR Master Exome Data Set M1: 283 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	4	46250558	G	A	ENST00000510861	ENSG00000151834	46250444	46477247	ENSP00000421828	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs187381142	0.00189	-	-	-	-	-	het	7
2	4	46250558	G	A	ENST00000514090	ENSG00000151834	46250444	46477247	ENSP00000421300	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs187381142	0.00189	-	-	-	-	-	het	7
3	4	46250562	A	G	ENST00000510861	ENSG00000151834	46250444	46477247	ENSP00000421828	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	NA	-	-	lod=100:461	-	-	-	het	1
4	4	46250562	A	G	ENST00000514090	ENSG00000151834	46250444	46477247	ENSP00000421300	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	NA	-	-	lod=100:461	-	-	-	het	1
5	4	46250605	C	T	ENST00000510861	ENSG00000151834	46250444	46477247	ENSP00000421828	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs16859227	0.24234	-	lod=100:461	-	-	-	hom	23
6	4	46250605	C	T	ENST00000510861	ENSG00000151834	46250444	46477247	ENSP00000421828	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs16859227	0.24234	-	lod=100:461	-	-	-	het	201
7	4	46250605	C	T	ENST00000514090	ENSG00000151834	46250444	46477247	ENSP00000421300	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs16859227	0.24234	-	lod=100:461	-	-	-	hom	23
8	4	46250605	C	T	ENST00000514090	ENSG00000151834	46250444	46477247	ENSP00000421300	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs16859227	0.24234	-	lod=100:461	-	-	-	het	201
9	4	46250620	C	A	ENST00000510861	ENSG00000151834	46250444	46477247	ENSP00000421828	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs192121332	0.00479	-	lod=100:461	-	-	-	het	9
10	4	46250620	C	A	ENST00000514090	ENSG00000151834	46250444	46477247	ENSP00000421300	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs192121332	0.00479	-	lod=100:461	-	-	-	het	9
11	4	46250677	G	A	ENST00000510861	ENSG00000151834	46250444	46477247	ENSP00000421828	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs497068	0.51813	-	-	-	-	-	het	287
12	4	46250677	G	A	ENST00000510861	ENSG00000151834	46250444	46477247	ENSP00000421828	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs497068	0.51813	-	-	-	-	-	hom	278
13	4	46250677	G	A	ENST00000514090	ENSG00000151834	46250444	46477247	ENSP00000421300	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs497068	0.51813	-	-	-	-	-	het	287
14	4	46250677	G	A	ENST00000514090	ENSG00000151834	46250444	46477247	ENSP00000421300	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs497068	0.51813	-	-	-	-	-	hom	278
15	4	46250719	A	G	ENST00000510861	ENSG00000151834	46250444	46477247	ENSP00000421828	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs75471058	0.0086	-	lod=339:592	-	-	-	het	3
16	4	46250719	A	G	ENST00000514090	ENSG00000151834	46250444	46477247	ENSP00000421300	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs75471058	0.0086	-	lod=339:592	-	-	-	het	3
17	4	46250719	A	T	ENST00000510861	ENSG00000151834	46250444	46477247	ENSP00000421828	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	NA	0.0086	-	lod=339:592	-	-	-	het	6
18	4	46250719	A	T	ENST00000514090	ENSG00000151834	46250444	46477247	ENSP00000421300	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	NA	0.0086	-	lod=339:592	-	-	-	het	6
19	4	46250769	T	C	ENST00000510861	ENSG00000151834	46250444	46477247	ENSP00000421828	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs149115766	0.01206	-	lod=339:592	-	-	-	het	3
20	4	46250769	T	C	ENST00000514090	ENSG00000151834	46250444	46477247	ENSP00000421300	GABRA2	-1	GBRA2_HUMAN	-	-	3'_UTR	rs149115766	0.01206	-	lod=339:592	-	-	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding GABRA2 4:46250444..46477247 region Gbrowse