ENST00000649283.1 CFHR2

Information
Transcript ID
ENST00000649283.1
Genome
hg38
Position
chr1:196,943,772-196,959,216
Strand
+
CDS length
651
Amino acid length
217
Gene symbol
CFHR2
Gene type
protein-coding
Gene description
complement factor H related 2
Gene Entrez Gene ID
3080
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
Entry Origin Type Annotation Entry Origin Annotation
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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
Entry Origin Type Annotation
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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
Entry Origin Type Annotation
Exon
Exon number Start Stop
1 196,943,772 196,943,938
2 196,949,617 196,949,649
3 196,950,852 196,951,028
4 196,957,891 196,958,073
5 196,958,881 196,959,216
CDS
Exon number Type Start Stop
1 CDS 196,943,881 196,943,938
2 CDS 196,949,617 196,949,649
3 CDS 196,950,852 196,951,028
4 CDS 196,957,891 196,958,073
5 CDS 196,958,881 196,959,080
Other genome
Genome Chromosome Start End Links
hg19 chr1 196,912,902 196,928,346 Link
CDS sequence
ATGTGGCTCCTGGTCAGTGTAATTCTAATCTCACGGATATCCTCTGTTGGGGGAGAAGAAGAAGGATGGTCACCAACACCAAAGTGTCTCAGACTGTGTTTCTTTCCTTTTGTGGAAAATGGTCATTCTGAATCTTCAGGACAAACACATCTGGAAGGTGATACTGTACAAATTATTTGCAACACAGGATACAGACTTCAAAACAATGAGAACAACATTTCATGTGTAGAACGGGGCTGGTCCACTCCTCCCAAATGCAGGTCCACTATTTCTGCAGAAAAATGTGGGCCCCCTCCACCTATTGACAATGGAGACATTACTTCATTCCTGTTGTCAGTATATGCTCCAGGTTCATCAGTTGAGTACCAGTGCCAGAACTTGTATCAACTTGAGGGTAACAATCAAATAACATGTAGAAACGGACAATGGTCAGAACCACCAAAATGCTTAGATCCATGTGTAATATCACAAGAAATTATGGAAAAATATAACATAAAATTAAAGTGGACAAACCAACAAAAGCTTTATTCAAGAACAGGTGACATAGTTGAATTTGTTTGTAAATCTGGATATCATCCAACAAAATCTCATTCATTTCGAGCAATGTGTCAGAATGGGAAACTGGTATATCCCAGTTGTGAAGAAAAATAG
Amino sequence
MWLLVSVILISRISSVGGEEEGWSPTPKCLRLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKCRSTISAEKCGPPPPIDNGDITSFLLSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQWSEPPKCLDPCVISQEIMEKYNIKLKWTNQQKLYSRTGDIVEFVCKSGYHPTKSHSFRAMCQNGKLVYPSCEEK*