JAK2 Janus kinase 2

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Information
Clinical Significance
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Disease area statistics
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Information

Symbol: JAK2
Type: protein-coding
Description: Janus kinase 2
Entrez Gene ID: 3717
Genome: hg19
Position: chr9:4,985,272-5,129,948
Genome: hg38
Position: chr9:4,985,272-5,129,948
MIM: 147796 OMIM
HGNC: HGNC:6192 HGNC
Ensembl: ENSG00000096968 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	3	12
Likely pathogenic	0	10
Benign	18	120
Likely benign	0	226
Conflicting classifications of pathogenicity	0	26
not provided	69	8
other	0	2
Uncertain significance	6	322

Ranking

	ClinVar
	0
	0
	78
	580
	20

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

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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
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
SYNONYM	JTK10
MIM	147796 OMIM
HGNC	HGNC:6192 HGNC
Ensembl	ENSG00000096968 Ensembl
AllianceGenome	HGNC:6192

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000381652.4	hg38	chr9	4,985,272	5,129,948	144,677
ENST00000381652.4	hg19	chr9	4,985,272	5,129,948	144,677

Key	Value
strand	+
UniProt	OG
start	4,985,244
Vogelstein	OG
Gene Symbol	JAK2
Entrez GeneId	3,717
Chr Band	9p24
end	5,128,182
chr	chr9
Name	Janus kinase 2

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