KANK2 KN motif and ankyrin repeat domains 2

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

Symbol: KANK2
Type: protein-coding
Description: KN motif and ankyrin repeat domains 2
Entrez Gene ID: 25959
Genome: hg19
Position: chr19:11,277,234-11,308,223
Genome: hg38
Position: chr19:11,166,558-11,197,547
MIM: 614610 OMIM
HGNC: HGNC:29300 HGNC
Ensembl: ENSG00000197256 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	0	4
Benign	0	122
Likely benign	0	296
Conflicting classifications of pathogenicity	0	6
Uncertain significance	0	342

Ranking

	ClinVar
	0
	0
	116
	620
	4

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

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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	ANKRD25
SYNONYM	MXRA3
SYNONYM	NPHS16
SYNONYM	PPKWH
SYNONYM	SIP
MIM	614610 OMIM
HGNC	HGNC:29300 HGNC
Ensembl	ENSG00000197256 Ensembl
AllianceGenome	HGNC:29300

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000586659.6	hg38	chr19	11,164,270	11,197,545	33,276
ENST00000589359.5	hg38	chr19	11,166,558	11,197,547	30,990
ENST00000589894.1	hg38	chr19	11,169,676	11,194,511	24,836
ENST00000586659.6	hg19	chr19	11,274,946	11,308,221	33,276
ENST00000589359.5	hg19	chr19	11,277,234	11,308,223	30,990
ENST00000589894.1	hg19	chr19	11,280,352	11,305,187	24,836

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