AIM2 absent in melanoma 2

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
Locus Zoom
Variants
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Information

Symbol: AIM2
Type: protein-coding
Description: absent in melanoma 2
Entrez Gene ID: 9447
Genome: hg19
Position: chr1:159,032,274-159,116,886
Genome: hg38
Position: chr1:159,062,484-159,147,096
MIM: 604578 OMIM
HGNC: HGNC:357 HGNC
Ensembl: ENSG00000163568 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	10
Likely benign	0	2
Conflicting classifications of pathogenicity	0	2
Uncertain significance	0	30

Ranking

	ClinVar
	0
	0
	0
	42
	0

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

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

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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
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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	PYHIN4
MIM	604578 OMIM
HGNC	HGNC:357 HGNC
Ensembl	ENSG00000163568 Ensembl
AllianceGenome	HGNC:357

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000411768.2	hg38	chr1	159,062,484	159,147,096	84,613
ENST00000695579.1	hg38	chr1	159,061,599	159,141,753	80,155
ENST00000695580.1	hg38	chr1	159,062,487	159,132,326	69,840
ENST00000368130.9	hg38	chr1	159,062,484	159,076,766	14,283
ENST00000695579.1	hg19	chr1	159,031,389	159,111,543	80,155
ENST00000368130.9	hg19	chr1	159,032,274	159,046,556	14,283
ENST00000411768.2	hg19	chr1	159,032,274	159,116,886	84,613
ENST00000695580.1	hg19	chr1	159,032,277	159,102,116	69,840

Key	Value
strand	-
UniProt	TSG
start	159,032,274
Gene Symbol	AIM2
Entrez GeneId	9,447
Chr Band	1q22
end	159,046,646
chr	chr1

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