ENST00000544363.5 CCM2

Information
Transcript ID
ENST00000544363.5
Genome
hg38
Position
chr7:45,000,188-45,076,469
Strand
+
CDS length
1,062
Amino acid length
354
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 45,000,188 45,000,363
2 45,038,253 45,038,426
3 45,063,918 45,064,001
4 45,064,463 45,064,646
5 45,072,726 45,072,783
6 45,073,460 45,073,571
7 45,074,270 45,074,408
8 45,075,777 45,076,469
CDS
Exon number Type Start Stop
1 CDS 45,000,334 45,000,363
2 CDS 45,038,253 45,038,426
3 CDS 45,063,918 45,064,001
4 CDS 45,064,463 45,064,646
5 CDS 45,072,726 45,072,783
6 CDS 45,073,460 45,073,571
7 CDS 45,074,270 45,074,408
8 CDS 45,075,777 45,076,057
Other genome
Genome Chromosome Start End Links
hg19 chr7 45,039,787 45,116,068 Link
CDS sequence
ATGGAAGAGGAGGGCAAGAAGGGCAAGAAGCCTGGAATTGTCTCGCCATTTAAACGAGTATTCCTAAAAGGTGAAAAGAGTAGAGATAAGAAAGCCCATGAGAAGGTGACAGAGAGGCGCCCTCTGCACACTGTGGTGTTGTCATTGCCTGAGCGCGTCGAGCCAGACAGACTGCTGAGCGACTATATTGAGAAGGAGGTAAAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCGTACAACGTCAAGCTGGCCTGGAGGGACGGGGAGGATATCATCCTCAGGGTGCCCATCCATGACATCGCCGCCGTCTCCTATGTTCGGGATGACGCTGCACACCTGGTGGTCCTGAAGACAGATGACTCTTCTACAAAAGTGGACATTAAGGAGACCTACGAGGTGGAAGCCAGCACTTTCTGCTTCCCTGAATCTGTGGATGTGGGTGGTGCATCACCCCACAGCAAGACCATCAGTGAGAGCGAGCTGAGCGCCAGCGCCACTGAGCTGCTGCAGGACTACATGCTGACGCTGCGCACCAAGCTGTCATCACAGGAGATCCAGCAGTTTGCAGCACTGCTGCACGAGTACCGCAATGGGGCCTCTATCCACGAGTTCTGCATCAACCTGCGGCAGCTCTACGGGGACAGCCGCAAGTTCCTGCTGCTTGGTCTGAGGCCCTTCATCCCTGAGAAGGACAGCCAGCACTTCGAGAACTTCCTGGAGACCATTGGCGTGAAGGATGGCCGCGGCATCATCACTGACAGCTTTGGCAGGCACCGGCGGGCCCTGAGCACCACATCCAGTTCCACCACCAATGGGAACAGGGCCACGGGCAGCTCTGATGACCGGTCGGCACCCTCAGAGGGGGATGAGTGGGACCGCATGATCTCGGACATCAGCAGCGACATTGAGGCGCTGGGCTGCAGCATGGACCAGGACTCAGCATGA
Amino sequence
MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLSDYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQDYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDEWDRMISDISSDIEALGCSMDQDSA*