ENST00000474617.1 CCM2

Information
Transcript ID
ENST00000474617.1
Genome
hg19
Position
chr7:45,067,271-45,116,030
Strand
+
CDS length
1,044
Amino acid length
348
Gene symbol
CCM2
Gene type
protein-coding
Gene description
CCM2 scaffold protein
Gene Entrez Gene ID
83605
Variants

Display target variant


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
Exon
Exon number Start Stop
1 45,067,271 45,067,396
2 45,077,852 45,078,025
3 45,103,517 45,103,600
4 45,104,062 45,104,245
5 45,112,325 45,112,382
6 45,113,059 45,113,170
7 45,113,869 45,114,007
8 45,115,376 45,116,030
CDS
Exon number Type Start Stop
1 CDS 45,067,385 45,067,396
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 45,112,325 45,112,382
6 CDS 45,113,059 45,113,170
7 CDS 45,113,869 45,114,007
8 CDS 45,115,376 45,115,656
Other genome
Genome Chromosome Start End Links
hg38 chr7 45,027,672 45,076,431 Link
CDS sequence
ATGGAGAATGAGCCTGGAATTGTCTCGCCATTTAAACGAGTATTCCTAAAAGGTGAAAAGAGTAGAGATAAGAAAGCCCATGAGAAGGTGACAGAGAGGCGCCCTCTGCACACTGTGGTGTTGTCATTGCCTGAGCGCGTCGAGCCAGACAGACTGCTGAGCGACTATATTGAGAAGGAGGTAAAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCGTACAACGTCAAGCTGGCCTGGAGGGACGGGGAGGATATCATCCTCAGGGTGCCCATCCATGACATCGCCGCCGTCTCCTATGTTCGGGATGACGCTGCACACCTGGTGGTCCTGAAGACAGATGACTCTTCTACAAAAGTGGACATTAAGGAGACCTACGAGGTGGAAGCCAGCACTTTCTGCTTCCCTGAATCTGTGGATGTGGGTGGTGCATCACCCCACAGCAAGACCATCAGTGAGAGCGAGCTGAGCGCCAGCGCCACTGAGCTGCTGCAGGACTACATGCTGACGCTGCGCACCAAGCTGTCATCACAGGAGATCCAGCAGTTTGCAGCACTGCTGCACGAGTACCGCAATGGGGCCTCTATCCACGAGTTCTGCATCAACCTGCGGCAGCTCTACGGGGACAGCCGCAAGTTCCTGCTGCTTGGTCTGAGGCCCTTCATCCCTGAGAAGGACAGCCAGCACTTCGAGAACTTCCTGGAGACCATTGGCGTGAAGGATGGCCGCGGCATCATCACTGACAGCTTTGGCAGGCACCGGCGGGCCCTGAGCACCACATCCAGTTCCACCACCAATGGGAACAGGGCCACGGGCAGCTCTGATGACCGGTCGGCACCCTCAGAGGGGGATGAGTGGGACCGCATGATCTCGGACATCAGCAGCGACATTGAGGCGCTGGGCTGCAGCATGGACCAGGACTCAGCATGA
Amino sequence
MENEPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLSDYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQDYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDEWDRMISDISSDIEALGCSMDQDSA*