ARID2 AT-rich interaction domain 2

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
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Information

Symbol: ARID2
Type: protein-coding
Description: AT-rich interaction domain 2
Entrez Gene ID: 196528
Genome: hg19
Position: chr12:46,123,489-46,301,820
Genome: hg38
Position: chr12:45,729,706-45,908,037
MIM: 609539 OMIM
HGNC: HGNC:18037 HGNC
Ensembl: ENSG00000189079 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	3	102
Likely pathogenic	0	54
Benign	0	66
Likely benign	0	166
Conflicting classifications of pathogenicity	0	4
not provided	39	14
Uncertain significance	8	278

Ranking

	ClinVar
	0
	0
	56
	570
	16

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Filtering	:

Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	BAF200
SYNONYM	CSS6
SYNONYM	SMARCF3
SYNONYM	ZIPZAP
SYNONYM	p200
MIM	609539 OMIM
HGNC	HGNC:18037 HGNC
Ensembl	ENSG00000189079 Ensembl
AllianceGenome	HGNC:18037

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000334344.11	hg38	chr12	45,729,706	45,908,037	178,332
ENST00000422737.7	hg38	chr12	45,729,706	45,893,918	164,213
ENST00000422737.7	hg19	chr12	46,123,489	46,287,701	164,213
ENST00000334344.11	hg19	chr12	46,123,489	46,301,820	178,332

Key	Value
strand	+
start	46,123,619
Vogelstein	TSG
Gene Symbol	ARID2
Entrez GeneId	196,528
Chr Band	12q12
end	46,301,818
chr	chr12
Name	AT rich interactive domain 2

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