F2 coagulation factor II, thrombin

Information
Symbol
F2
Type
protein-coding
Description
coagulation factor II, thrombin
Entrez Gene ID
2147
Genome
hg19
Position
chr11:46,740,763-46,761,056
Genome
hg38
Position
chr11:46,719,213-46,739,506
MIM
176930 OMIM
HGNC
HGNC:3535 HGNC
Ensembl
ENSG00000180210 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 9 48
Likely pathogenic 2 24
Benign 6 56
Likely benign 0 398
Conflicting classifications of pathogenicity 0 42
Conflicting classifications of pathogenicity; risk factor 0 4
not provided 0 2
Uncertain significance 0 120
Ranking
ClinVar
0
0
54
550
28
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
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
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM PT
SYNONYM RPRGL2
SYNONYM THPH1
MIM 176930 OMIM
HGNC HGNC:3535 HGNC
Ensembl ENSG00000180210 Ensembl
AllianceGenome HGNC:3535
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000530231.5 hg38 chr11 46,719,231 46,739,500 20,270
ENST00000311907.10 hg38 chr11 46,719,213 46,739,506 20,294
ENST00000311907.10 hg19 chr11 46,740,763 46,761,056 20,294
ENST00000530231.5 hg19 chr11 46,740,781 46,761,050 20,270
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