ENST00000544363.5 CCM2
Information
- Transcript ID
- ENST00000544363.5
- Genome
- hg19
- Position
- chr7:45,039,787-45,116,068
- 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
Display target variant
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| 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 | 45,039,787 | 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 | 45,112,325 | 45,112,382 |
| 6 | 45,113,059 | 45,113,170 |
| 7 | 45,113,869 | 45,114,007 |
| 8 | 45,115,376 | 45,116,068 |
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 | 45,112,325 | 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 | 45,000,188 | 45,076,469 | Link |
CDS sequence
ATGGAAGAGGAGGGCAAGAAGGGCAAGAAGCCTGGAATTGTCTCGCCATTTAAACGAGTATTCCTAAAAGGTGAAAAGAGTAGAGATAAGAAAGCCCATGAGAAGGTGACAGAGAGGCGCCCTCTGCACACTGTGGTGTTGTCATTGCCTGAGCGCGTCGAGCCAGACAGACTGCTGAGCGACTATATTGAGAAGGAGGTAAAGTATTTAGGTCAGTTAACGTCCATACCAGGATACCTGAATCCCTCCAGTAGGACTGAAATCCTGCATTTCATAGACAATGCAAAGAGAGCCCACCAGCTTCCGGGACACTTGACTCAGGAGCACGATGCTGTGCTCAGCCTGTCTGCGTACAACGTCAAGCTGGCCTGGAGGGACGGGGAGGATATCATCCTCAGGGTGCCCATCCATGACATCGCCGCCGTCTCCTATGTTCGGGATGACGCTGCACACCTGGTGGTCCTGAAGACAGATGACTCTTCTACAAAAGTGGACATTAAGGAGACCTACGAGGTGGAAGCCAGCACTTTCTGCTTCCCTGAATCTGTGGATGTGGGTGGTGCATCACCCCACAGCAAGACCATCAGTGAGAGCGAGCTGAGCGCCAGCGCCACTGAGCTGCTGCAGGACTACATGCTGACGCTGCGCACCAAGCTGTCATCACAGGAGATCCAGCAGTTTGCAGCACTGCTGCACGAGTACCGCAATGGGGCCTCTATCCACGAGTTCTGCATCAACCTGCGGCAGCTCTACGGGGACAGCCGCAAGTTCCTGCTGCTTGGTCTGAGGCCCTTCATCCCTGAGAAGGACAGCCAGCACTTCGAGAACTTCCTGGAGACCATTGGCGTGAAGGATGGCCGCGGCATCATCACTGACAGCTTTGGCAGGCACCGGCGGGCCCTGAGCACCACATCCAGTTCCACCACCAATGGGAACAGGGCCACGGGCAGCTCTGATGACCGGTCGGCACCCTCAGAGGGGGATGAGTGGGACCGCATGATCTCGGACATCAGCAGCGACATTGAGGCGCTGGGCTGCAGCATGGACCAGGACTCAGCATGA
Amino sequence
MEEEGKKGKKPGIVSPFKRVFLKGEKSRDKKAHEKVTERRPLHTVVLSLPERVEPDRLLSDYIEKEVKYLGQLTSIPGYLNPSSRTEILHFIDNAKRAHQLPGHLTQEHDAVLSLSAYNVKLAWRDGEDIILRVPIHDIAAVSYVRDDAAHLVVLKTDDSSTKVDIKETYEVEASTFCFPESVDVGGASPHSKTISESELSASATELLQDYMLTLRTKLSSQEIQQFAALLHEYRNGASIHEFCINLRQLYGDSRKFLLLGLRPFIPEKDSQHFENFLETIGVKDGRGIITDSFGRHRRALSTTSSSTTNGNRATGSSDDRSAPSEGDEWDRMISDISSDIEALGCSMDQDSA*