MAP2K2 mitogen-activated protein kinase kinase 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 14 | 22 |
Likely pathogenic | 2 | 44 |
Benign | 4 | 240 |
Likely benign | 0 | 632 |
Conflicting classifications of pathogenicity | 0 | 74 |
not provided | 34 | 0 |
Uncertain significance | 1 | 630 |
Ranking
ClinVar | |
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0 |
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96 |
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396 |
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996 |
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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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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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | CFC4 |
SYNONYM | MAPKK2 |
SYNONYM | MEK2 |
SYNONYM | MKK2 |
SYNONYM | PRKMK2 |
MIM | 601263 OMIM |
HGNC | HGNC:6842 HGNC |
Ensembl | ENSG00000126934 Ensembl |
AllianceGenome | HGNC:6842 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000262948.10 | hg38 | chr19 | 4,090,321 | 4,124,122 | 33,802 |
ENST00000262948.10 | hg19 | chr19 | 4,090,319 | 4,124,119 | 33,801 |
Key | Value |
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strand | - |
start | 4,090,319 |
Gene Symbol | MAP2K2 |
Entrez GeneId | 5,605 |
Chr Band | 19p13.3 |
end | 4,124,125 |
chr | chr19 |
Name | mitogen-activated protein kinase kinase 2 |
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