CFHR2 complement factor H related 2

Information
Symbol
CFHR2
Type
protein-coding
Description
complement factor H related 2
Entrez Gene ID
3080
Genome
hg19
Position
chr1:196,912,868-196,928,752
Genome
hg38
Position
chr1:196,943,738-196,959,622
MIM
600889 OMIM
HGNC
HGNC:4890 HGNC
Ensembl
ENSG00000080910 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 40
Likely benign 0 22
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 26
Ranking
ClinVar
0
0
8
72
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
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 CFHL2
SYNONYM FHR2
SYNONYM HFL3
MIM 600889 OMIM
HGNC HGNC:4890 HGNC
Ensembl ENSG00000080910 Ensembl
AllianceGenome HGNC:4890
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367421.5 hg38 chr1 196,943,756 196,959,212 15,457
ENST00000476712.6 hg38 chr1 196,943,772 196,959,226 15,455
ENST00000496448.6 hg38 chr1 196,943,837 196,959,219 15,383
ENST00000489703.2 hg38 chr1 196,943,772 196,959,215 15,444
ENST00000649960.2 hg38 chr1 196,943,881 196,959,106 15,226
ENST00000473386.1 hg38 chr1 196,943,858 196,959,215 15,358
ENST00000649283.1 hg38 chr1 196,943,772 196,959,216 15,445
ENST00000367415.8 hg38 chr1 196,943,738 196,959,622 15,885
ENST00000367415.8 hg19 chr1 196,912,868 196,928,752 15,885
ENST00000367421.5 hg19 chr1 196,912,886 196,928,342 15,457
ENST00000489703.2 hg19 chr1 196,912,902 196,928,345 15,444
ENST00000649283.1 hg19 chr1 196,912,902 196,928,346 15,445
ENST00000476712.6 hg19 chr1 196,912,902 196,928,356 15,455
ENST00000496448.6 hg19 chr1 196,912,967 196,928,349 15,383
ENST00000473386.1 hg19 chr1 196,912,988 196,928,345 15,358
ENST00000649960.2 hg19 chr1 196,913,011 196,928,236 15,226
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