ENST00000258781.11 CCM2

Information
Transcript ID
ENST00000258781.11
Genome
hg19
Position
chr7:45,039,800-45,116,052
Strand
+
CDS length
1,335
Amino acid length
445
Gene symbol
CCM2
Gene type
protein-coding
Gene description
CCM2 scaffold protein
Gene Entrez Gene ID
83605
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 45,039,800 45,039,962
2 45,077,852 45,078,025
3 45,103,517 45,103,600
4 45,104,062 45,104,245
5 45,108,042 45,108,178
6 45,109,425 45,109,560
7 45,112,325 45,112,382
8 45,113,059 45,113,170
9 45,113,869 45,114,007
10 45,115,376 45,116,052
CDS
Exon number Type Start Stop
1 CDS 45,039,933 45,039,962
2 CDS 45,077,852 45,078,025
3 CDS 45,103,517 45,103,600
4 CDS 45,104,062 45,104,245
5 CDS 45,108,042 45,108,178
6 CDS 45,109,425 45,109,560
7 CDS 45,112,325 45,112,382
8 CDS 45,113,059 45,113,170
9 CDS 45,113,869 45,114,007
10 CDS 45,115,376 45,115,656
Other genome
Genome Chromosome Start End Links
hg38 chr7 45,000,201 45,076,453 Link
CDS sequence
ATGGAAGAGGAGGGCAAGAAGGGCAAGAAGCCTGGAATTGTCTCGCCATTTAAACGAGTATTCCTAAAAGGTGAAAAGAGTAGAGATAAGAAAGCCCATGAGAAGGTGACAGAGAGGCGCCCTCTGCACACTGTGGTGTTGTCATTGCCTGAGCGCGTCGAGCCAGACAGACTGCTGAGCGACTATATTGAGAAGGAGGTAAAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCGTACAACGTCAAGCTGGCCTGGAGGGACGGGGAGGATATCATCCTCAGGGTGCCCATCCATGACATCGCCGCCGTCTCCTATGTTCGGGATGACGCTGCACACCTGGTGGTCCTGAAGACAGCCCAGGACCCAGGGATCTCCCCCAGCCAGAGTCTGTGTGCGGAAAGTTCCAGAGGCCTCAGTGCAGGCTCCCTGTCGGAGAGTGCAGTTGGGCCCGTGGAGGCATGCTGCCTGGTCATCCTGGCTGCAGAGAGCAAGGTCGCTGCGGAGGAGCTTTGCTGTCTGCTAGGCCAGGTCTTCCAGGTTGTTTACACGGAGTCCACCATCGACTTTCTGGACAGAGCGATATTTGATGGGGCCTCTACCCCGACCCACCACCTGTCCCTGCACAGCGATGACTCTTCTACAAAAGTGGACATTAAGGAGACCTACGAGGTGGAAGCCAGCACTTTCTGCTTCCCTGAATCTGTGGATGTGGGTGGTGCATCACCCCACAGCAAGACCATCAGTGAGAGCGAGCTGAGCGCCAGCGCCACTGAGCTGCTGCAGGACTACATGCTGACGCTGCGCACCAAGCTGTCATCACAGGAGATCCAGCAGTTTGCAGCACTGCTGCACGAGTACCGCAATGGGGCCTCTATCCACGAGTTCTGCATCAACCTGCGGCAGCTCTACGGGGACAGCCGCAAGTTCCTGCTGCTTGGTCTGAGGCCCTTCATCCCTGAGAAGGACAGCCAGCACTTCGAGAACTTCCTGGAGACCATTGGCGTGAAGGATGGCCGCGGCATCATCACTGACAGCTTTGGCAGGCACCGGCGGGCCCTGAGCACCACATCCAGTTCCACCACCAATGGGAACAGGGCCACGGGCAGCTCTGATGACCGGTCGGCACCCTCAGAGGGGGATGAGTGGGACCGCATGATCTCGGACATCAGCAGCGACATTGAGGCGCTGGGCTGCAGCATGGACCAGGACTCAGCATGA
Amino sequence
MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLSDYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTAQDPGISPSQSLCAESSRGLSAGSLSESAVGPVEACCLVILAAESKVAAEELCCLLGQVFQVVYTESTIDFLDRAIFDGASTPTHHLSLHSDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQDYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDEWDRMISDISSDIEALGCSMDQDSA*