ENST00000496448.6 CFHR2

Information
Transcript ID
ENST00000496448.6
Genome
hg19
Position
chr1:196,912,967-196,928,349
Strand
+
CDS length
618
Amino acid length
206
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
1 196,912,967 196,913,068
2 196,919,982 196,920,158
3 196,927,021 196,927,203
4 196,928,011 196,928,349
CDS
Exon number Type Start Stop
1 CDS 196,913,011 196,913,068
2 CDS 196,919,982 196,920,158
3 CDS 196,927,021 196,927,203
4 CDS 196,928,011 196,928,210
Other genome
Genome Chromosome Start End Links
hg38 chr1 196,943,837 196,959,219 Link
CDS sequence
ATGTGGCTCCTGGTCAGTGTAATTCTAATCTCACGGATATCCTCTGTTGGGGGAGAAGGACTGTGTTTCTTTCCTTTTGTGGAAAATGGTCATTCTGAATCTTCAGGACAAACACATCTGGAAGGTGATACTGTACAAATTATTTGCAACACAGGATACAGACTTCAAAACAATGAGAACAACATTTCATGTGTAGAACGGGGCTGGTCCACTCCTCCCAAATGCAGGTCCACTATTTCTGCAGAAAAATGTGGGCCCCCTCCACCTATTGACAATGGAGACATTACTTCATTCCTGTTGTCAGTATATGCTCCAGGTTCATCAGTTGAGTACCAGTGCCAGAACTTGTATCAACTTGAGGGTAACAATCAAATAACATGTAGAAACGGACAATGGTCAGAACCACCAAAATGCTTAGATCCATGTGTAATATCACAAGAAATTATGGAAAAATATAACATAAAATTAAAGTGGACAAACCAACAAAAGCTTTATTCAAGAACAGGTGACATAGTTGAATTTGTTTGTAAATCTGGATATCATCCAACAAAATCTCATTCATTTCGAGCAATGTGTCAGAATGGGAAACTGGTATATCCCAGTTGTGAAGAAAAATAG
Amino sequence
MWLLVSVILISRISSVGGEGLCFFPFVENGHSESSGQTHLEGDTVQIICNTGYRLQNNENNISCVERGWSTPPKCRSTISAEKCGPPPPIDNGDITSFLLSVYAPGSSVEYQCQNLYQLEGNNQITCRNGQWSEPPKCLDPCVISQEIMEKYNIKLKWTNQQKLYSRTGDIVEFVCKSGYHPTKSHSFRAMCQNGKLVYPSCEEK*