AMZ2 archaelysin family metallopeptidase 2

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

Symbol: AMZ2
Type: protein-coding
Description: archaelysin family metallopeptidase 2
Entrez Gene ID: 51321
Genome: hg19
Position: chr17:66,201,622-66,253,853
Genome: hg38
Position: chr17:68,205,481-68,257,712
MIM: 615169 OMIM
HGNC: HGNC:28041 HGNC
Ensembl: ENSG00000196704 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	10
Likely benign	0	12
Uncertain significance	0	38

Ranking

	ClinVar
	0
	0
	2
	54
	2

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

Search Word

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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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
MIM	615169 OMIM
HGNC	HGNC:28041 HGNC
Ensembl	ENSG00000196704 Ensembl
AllianceGenome	HGNC:28041

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000580753.5	hg38	chr17	68,248,035	68,257,139	9,105
ENST00000674770.2	hg38	chr17	68,205,481	68,257,712	52,232
ENST00000359783.8	hg38	chr17	68,248,051	68,257,127	9,077
ENST00000359904.8	hg38	chr17	68,248,043	68,257,155	9,113
ENST00000392720.6	hg38	chr17	68,248,043	68,257,154	9,112
ENST00000577985.5	hg38	chr17	68,249,200	68,257,155	7,956
ENST00000577273.1	hg38	chr17	68,250,187	68,257,121	6,935
ENST00000577866.5	hg38	chr17	68,248,504	68,257,090	8,587
ENST00000612294.4	hg38	chr17	68,248,004	68,257,164	9,161
ENST00000674770.2	hg19	chr17	66,201,622	66,253,853	52,232
ENST00000580753.5	hg19	chr17	66,244,176	66,253,280	9,105
ENST00000392720.6	hg19	chr17	66,244,184	66,253,295	9,112
ENST00000359904.8	hg19	chr17	66,244,184	66,253,296	9,113
ENST00000359783.8	hg19	chr17	66,244,192	66,253,268	9,077
ENST00000577866.5	hg19	chr17	66,244,645	66,253,231	8,587
ENST00000577273.1	hg19	chr17	66,246,328	66,253,262	6,935
ENST00000577985.5	hg19	chr17	66,245,341	66,253,296	7,956
ENST00000612294.4	hg19	chr17	66,244,145	66,253,305	9,161

Key	Value
strand	+
start	66,244,144
Gene Symbol	AMZ2
Entrez GeneId	51,321
Chr Band	17q24.2
end	66,253,304
chr	chr17

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