ENST00000679516.1 ALS2
Information
- Transcript ID
- ENST00000679516.1
- Genome
- hg19
- Position
- chr2:202,565,289-202,633,866
- Strand
- -
- CDS length
- 4,974
- Amino acid length
- 1,658
- Gene symbol
- ALS2
- Gene type
- protein-coding
- Gene description
- alsin Rho guanine nucleotide exchange factor ALS2
- Gene Entrez Gene ID
- 57679
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 |
|---|---|---|
| 33 | 202,565,289 | 202,566,612 |
| 32 | 202,568,845 | 202,568,941 |
| 31 | 202,569,177 | 202,569,326 |
| 30 | 202,569,862 | 202,569,923 |
| 29 | 202,570,139 | 202,570,184 |
| 28 | 202,571,569 | 202,571,745 |
| 27 | 202,572,592 | 202,572,714 |
| 26 | 202,574,604 | 202,574,761 |
| 25 | 202,575,714 | 202,575,831 |
| 24 | 202,580,395 | 202,580,562 |
| 23 | 202,582,800 | 202,582,933 |
| 22 | 202,587,766 | 202,587,843 |
| 21 | 202,588,053 | 202,588,164 |
| 20 | 202,589,018 | 202,589,182 |
| 19 | 202,590,079 | 202,590,177 |
| 18 | 202,591,207 | 202,591,272 |
| 17 | 202,591,387 | 202,591,589 |
| 16 | 202,591,935 | 202,592,001 |
| 15 | 202,592,428 | 202,592,498 |
| 14 | 202,593,235 | 202,593,363 |
| 13 | 202,593,775 | 202,593,906 |
| 12 | 202,597,999 | 202,598,161 |
| 11 | 202,603,393 | 202,603,458 |
| 10 | 202,606,397 | 202,606,577 |
| 9 | 202,608,981 | 202,609,152 |
| 8 | 202,611,289 | 202,611,471 |
| 7 | 202,614,435 | 202,614,512 |
| 6 | 202,617,869 | 202,617,965 |
| 5 | 202,619,226 | 202,619,394 |
| 4 | 202,622,125 | 202,622,482 |
| 3 | 202,625,604 | 202,626,541 |
| 2 | 202,631,952 | 202,632,106 |
| 1 | 202,633,589 | 202,633,866 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 33 | CDS | 202,566,574 | 202,566,612 |
| 32 | CDS | 202,568,845 | 202,568,941 |
| 31 | CDS | 202,569,177 | 202,569,326 |
| 30 | CDS | 202,569,862 | 202,569,923 |
| 29 | CDS | 202,570,139 | 202,570,184 |
| 28 | CDS | 202,571,569 | 202,571,745 |
| 27 | CDS | 202,572,592 | 202,572,714 |
| 26 | CDS | 202,574,604 | 202,574,761 |
| 25 | CDS | 202,575,714 | 202,575,831 |
| 24 | CDS | 202,580,395 | 202,580,562 |
| 23 | CDS | 202,582,800 | 202,582,933 |
| 22 | CDS | 202,587,766 | 202,587,843 |
| 21 | CDS | 202,588,053 | 202,588,164 |
| 20 | CDS | 202,589,018 | 202,589,182 |
| 19 | CDS | 202,590,079 | 202,590,177 |
| 18 | CDS | 202,591,207 | 202,591,272 |
| 17 | CDS | 202,591,387 | 202,591,589 |
| 16 | CDS | 202,591,935 | 202,592,001 |
| 15 | CDS | 202,592,428 | 202,592,498 |
| 14 | CDS | 202,593,235 | 202,593,363 |
| 13 | CDS | 202,593,775 | 202,593,906 |
| 12 | CDS | 202,597,999 | 202,598,161 |
| 11 | CDS | 202,603,393 | 202,603,458 |
| 10 | CDS | 202,606,397 | 202,606,577 |
| 9 | CDS | 202,608,981 | 202,609,152 |
| 8 | CDS | 202,611,289 | 202,611,471 |
| 7 | CDS | 202,614,435 | 202,614,512 |
| 6 | CDS | 202,617,869 | 202,617,965 |
| 5 | CDS | 202,619,226 | 202,619,394 |
| 4 | CDS | 202,622,125 | 202,622,482 |
| 3 | CDS | 202,625,604 | 202,626,541 |
| 2 | CDS | 202,631,952 | 202,632,106 |
| 1 | CDS | 202,633,589 | 202,633,608 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg38 | chr2 | 201,700,566 | 201,769,143 | Link |
CDS sequence
ATGGACTCAAAGAAGAGAAGCTCAACAGAGGCAGAAGGATCCAAGGAAAGAGGCCTGGTCCATATCTGGCAGGCAGGATCCTTTCCCATAACACCAGAGAGATTGCCAGGCTGGGGAGGAAAGACTGTTTTGCAGGCAGCCCTCGGAGTGAAACATGGAGTTCTTCTGACTGAAGATGGTGAGGTCTACAGCTTTGGGACTCTTCCCTGGAGAAGTGGACCAGTGGAGATTTGTCCAAGTAGCCCCATTCTAGAAAATGCCCTGGTTGGGCAATATGTTATTACTGTGGCAACAGGAAGCTTCCATAGTGGAGCAGTGACAGACAATGGTGTCGCGTACATGTGGGGAGAGAATTCTGCTGGCCAGTGTGCAGTAGCCAACCAGCAGTATGTGCCGGAACCAAATCCTGTCAGCATTGCTGATTCTGAGGCCAGCCCTTTGTTAGCAGTCAGGATTTTACAGTTGGCGTGTGGCGAGGAGCACACTCTGGCATTGTCAATAAGCAGAGAGATTTGGGCATGGGGTACCGGTTGTCAGTTGGGTCTCATTACCACTGCCTTCCCAGTGACAAAGCCGCAAAAGGTAGAACATCTTGCTGGGCGAGTGGTGCTTCAAGTTGCCTGTGGTGCTTTCCACAGCTTAGCCCTTGTACAATGCCTCCCTTCCCAGGATCTGAAGCCAGTCCCAGAACGATGCAACCAGTGCAGCCAGCTCTTGATTACTATGACTGACAAAGAAGACCATGTGATTATATCAGACAGTCATTGTTGCCCATTAGGTGTGACACTGACAGAATCTCAGGCAGAAAACCATGCCAGCACTGCTCTCAGCCCCTCCACTGAAACCCTTGACAGGCAGGAAGAAGTATTTGAGAACACTCTTGTAGCAAATGATCAGTCTGTTGCTACTGAACTGAATGCAGTAAGTGCTCAGATCACAAGCAGCGATGCCATGTCCTCTCAACAAAATGTCATGGGAACAACTGAAATTTCCTCTGCCAGAAACATACCATCATACCCTGACACCCAAGCAGTCAATGAATACCTACGGAAACTGTCAGATCATTCAGTAAGAGAGGACTCAGAGCATGGTGAAAAGCCAGTGCCATCTCAGCCTCTTTTAGAAGAAGCAATTCCTAATCTCCACAGCCCGCCTACCACAAGCACCTCAGCCCTAAACAGCCTGGTGGTCTCTTGTGCATCTGCTGTTGGTGTGAGAGTGGCTGCTACTTATGAAGCTGGTGCCTTGTCACTGAAGAAAGTTATGAACTTTTATAGTACAACCCCTTGTGAAACTGGAGCTCAGGCAGGCAGTAGTGCCATTGGCCCCGAAGGTTTGAAAGATAGCAGGGAAGAACAGGTTAAACAGGAATCAATGCAAGGAAAGAAAAGTTCAAGTCTTGTGGATATCAGAGAAGAAGAAACAGAGGGAGGCAGTCGAAGACTCTCCCTCCCTGGATTGTTGTCACAAGTTTCCCCCAGGCTCTTAAGAAAGGCTGCACGGGTGAAAACGAGGACAGTGGTTCTGACCCCCACATACAGTGGAGAAGCAGATGCGCTCCTGCCTTCTCTGAGAACAGAAGTGTGGACCTGGGGGAAAGGGAAGGAAGGGCAGCTGGGGCACGGCGATGTTCTGCCTAGGCTTCAACCGTTGTGTGTAAAATGTCTGGATGGCAAAGAAGTAATCCATCTGGAGGCAGGTGGTTACCATTCTCTTGCACTTACTGCGAAATCCCAGGTTTACTCATGGGGTAGCAATACCTTTGGTCAACTTGGGCATTCCGATTTTCCAACAACAGTTCCTCGTCTTGCAAAGATAAGCAGTGAAAATGGAGTCTGGAGCATAGCTGCAGGCAGGGATTATTCCCTGTTTTTAGTGGATACAGAAGACTTCCAGCCTGGGTTATATTACAGTGGCCGACAGGACCCTACAGAAGGTGACAACCTTCCAGAGAATCACAGTGGTTCTAAGACTCCAGTACTTCTCTCCTGTAGTAAGCTTGGATATATAAGCAGAGTGACAGCAGGAAAAGATAGCTATTTAGCCTTGGTGGATAAAAACATTATGGGGTATATTGCCAGTCTCCACGAGTTAGCTACTACAGAAAGACGATTCTATTCAAAACTAAGTGATATCAAATCTCAGATTCTCAGGCCTCTTCTCAGTTTAGAAAATTTGGGCACTACAACTACAGTCCAGCTGTTGCAGGAGGTGGCTAGCCGATTCAGCAAGCTGTGTTACCTCATTGGTCAGCATGGAGCCTCATTGAGCAGCTTCCTTCATGGGGTAAAGGAAGCCAGGAGTTTGGTCATCCTGAAGCATTCAAGTCTCTTCTTGGATAGTTATACAGAGTATTGCACATCTATTACAAATTTCCTGGTTATGGGAGGATTCCAGCTTCTTGCTAAGCCTGCCATTGATTTCCTAAATAAAAACCAAGAGCTGTTGCAAGATTTGTCAGAAGTGAATGACGAAAACACTCAGTTGATGGAAATACTGAATACTTTGTTTTTCTTGCCAATCAGACGACTTCATAATTACGCAAAAGTTTTGCTAAAGCTTGCTACTTGTTTTGAAGTGGCATCTCCAGAATATCAGAAACTGCAGGATTCCAGTTCTTGTTATGAGTGTCTTGCTCTCCATCTCGGCAGGAAAAGGAAGGAAGCAGAATACACACTGGGCTTCTGGAAGACCTTCCCCGGAAAAATGACGGATTCCTTGAGGAAGCCAGAGCGTCGACTGCTGTGTGAGAGTAGTAACCGAGCCCTGTCTCTGCAGCATGCTGGGAGGTTTTCCGTGAATTGGTTCATTCTCTTTAATGATGCCCTGGTCCATGCCCAGTTCTCCACGCACCATGTTTTCCCTCTGGCCACGCTGTGGGCAGAGCCACTGTCTGAAGAAGCTGGTGGTGTGAATGGCTTAAAGATAACTACACCTGAGGAGCAGTTCACTCTCATTTCATCTACACCCCAGGAAAAGACAAAGTGGCTACGAGCTATAAGCCAAGCCGTAGATCAGGCTTTGAGAGGGATGTCTGATCTCCCCCCTTATGGAAGTGGTAGCAGTGTTCAGAGACAGGAACCACCCATTTCACGCAGTGCCAAATATACTTTCTACAAGGATCCTCGCCTAAAGGATGCCACCTATGATGGACGCTGGCTTTCAGGGAAGCCTCATGGCAGAGGGGTTTTGAAGTGGCCTGATGGAAAGATGTATTCTGGCATGTTCAGGAATGGCTTGGAAGATGGGTATGGAGAATACAGAATCCCAAACAAGGCAATGAACAAAGAAGACCATTATGTGGGCCATTGGAAAGAAGGAAAAATGTGCGGTCAAGGAGTCTACAGCTATGCTTCTGGTGAAGTATTTGAGGGCTGTTTTCAAGATAATATGCGTCATGGTCATGGTCTTCTACGAAGTGGGAAATTGACGTCCTCTTCTCCTAGTATGTTCATTGGCCAGTGGGTAATGGATAAGAAAGCAGGATATGGTGTCTTTGATGATATCACTAGGGGGGAAAAGTATATGGGAATGTGGCAAGATGATGTGTGTCAAGGGAATGGTGTGGTGGTTACCCAGTTTGGATTATACTACGAGGGCAACTTTCACCTTAATAAAATGATGGGAAATGGGGTTTTGCTTTCCGAAGATGATACTATCTATGAAGGAGAATTTTCAGATGACTGGACTCTTAGTGGAAAGGGAACACTGACTATGCCAAATGGAGACTACATTGAAGGTTATTTTAGTGGAGAATGGGGATCTGGGATAAAAATCACTGGAACCTACTTCAAACCTAGTCTATATGAGAGTGATAAAGACAGACCTAAAGTTTTCAGGAAGCTAGGAAACCTGGCAGTGCCAGCTGATGAGAAGTGGAAAGCGGTGTTTGACGAATGTTGGCGCCAACTGGGCTGTGAGGGCCCAGGCCAAGGGGAAGTTTGGAAAGCATGGGACAATATTGCTGTGGCCTTGACCACCAGTCGGCGCCAGCACAGAGACAGTCCAGAAATACTGAGTCGTTCACAGACTCAGACACTAGAGAGTTTGGAATTCATTCCACAGCATGTTGGTGCCTTCTCTGTGGAGAAATATGATGACATCAGGAAATATTTAATAAAGGCCTGTGACACTCCTCTGCACCCCCTGGGCAGGCTTGTGGAGACACTGGTTGCAGTGTATAGAATGACATACGTGGGCGTAGGAGCCAACCGCAGGTTATTGCAGGAGGCTGTAAAGGAGATTAAGTCCTATCTTAAGCGAATTTTCCAGCTGGTGAGGTTCTTATTTCCTGAGCTGCCTGAAGAAGGCAGCACAATTCCTCTCTCTGCTCCTCTGCCAACCGAAAGGAAGTCTTTTTGCACTGGGAAGTCAGATTCCCGATCTGAATCACCAGAGCCAGGTTATGTAGTAACGAGTTCTGGATTATTGCTTCCTGTGCTGCTACCTCGGCTCTACCCACCGCTGTTTATGCTTTATGCTTTGGATAATGATCGCGAGGAAGACATTTACTGGGAATGTGTCCTTCGACTAAATAAGCAGCCAGATATTGCTCTCCTGGGCTTTCTTGGGGTGCAGAGGAAATTTTGGCCAGCAACCTTGTCAATCCTTGGAGAGAGTAAAAAGGTTTTGCCAACCACGAAAGATGCTTGTTTTGCCTCAGCAGTAGAATGTCTGCAGCAGATCAGCACAACATTTACCCCATCAGACAAACTTAAGGTCATCCAGCAGACTTTTGAGGAGATCTCTCAGAGTGTCCTGGCGTCACTCCACGAAGACTTCTTGTGGTCCATGGATGACTTGTTTCCTGTTTTCTTATATGTGGTGCTACGGGCCAGGATTAGGAATTTAGGCTCTGAGGTACACCTCATTGAGGATCTAATGGACCCCTATCTTCAGCATGGGGAACAGGGTATAATGTTCACCACCTTGAAGGCATGTTACTACCAGATTCAGCGTGAGAAGCTTAACTAG
Amino sequence
MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDGEVYSFGTLPWRSGPVEICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSAGQCAVANQQYVPEPNPVSIADSEASPLLAVRILQLACGEEHTLALSISREIWAWGTGCQLGLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQCLPSQDLKPVPERCNQCSQLLITMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPSTETLDRQEEVFENTLVANDQSVATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLRKLSDHSVREDSEHGEKPVPSQPLLEEAIPNLHSPPTTSTSALNSLVVSCASAVGVRVAATYEAGALSLKKVMNFYSTTPCETGAQAGSSAIGPEGLKDSREEQVKQESMQGKKSSSLVDIREEETEGGSRRLSLPGLLSQVSPRLLRKAARVKTRTVVLTPTYSGEADALLPSLRTEVWTWGKGKEGQLGHGDVLPRLQPLCVKCLDGKEVIHLEAGGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTVPRLAKISSENGVWSIAAGRDYSLFLVDTEDFQPGLYYSGRQDPTEGDNLPENHSGSKTPVLLSCSKLGYISRVTAGKDSYLALVDKNIMGYIASLHELATTERRFYSKLSDIKSQILRPLLSLENLGTTTTVQLLQEVASRFSKLCYLIGQHGASLSSFLHGVKEARSLVILKHSSLFLDSYTEYCTSITNFLVMGGFQLLAKPAIDFLNKNQELLQDLSEVNDENTQLMEILNTLFFLPIRRLHNYAKVLLKLATCFEVASPEYQKLQDSSSCYECLALHLGRKRKEAEYTLGFWKTFPGKMTDSLRKPERRLLCESSNRALSLQHAGRFSVNWFILFNDALVHAQFSTHHVFPLATLWAEPLSEEAGGVNGLKITTPEEQFTLISSTPQEKTKWLRAISQAVDQALRGMSDLPPYGSGSSVQRQEPPISRSAKYTFYKDPRLKDATYDGRWLSGKPHGRGVLKWPDGKMYSGMFRNGLEDGYGEYRIPNKAMNKEDHYVGHWKEGKMCGQGVYSYASGEVFEGCFQDNMRHGHGLLRSGKLTSSSPSMFIGQWVMDKKAGYGVFDDITRGEKYMGMWQDDVCQGNGVVVTQFGLYYEGNFHLNKMMGNGVLLSEDDTIYEGEFSDDWTLSGKGTLTMPNGDYIEGYFSGEWGSGIKITGTYFKPSLYESDKDRPKVFRKLGNLAVPADEKWKAVFDECWRQLGCEGPGQGEVWKAWDNIAVALTTSRRQHRDSPEILSRSQTQTLESLEFIPQHVGAFSVEKYDDIRKYLIKACDTPLHPLGRLVETLVAVYRMTYVGVGANRRLLQEAVKEIKSYLKRIFQLVRFLFPELPEEGSTIPLSAPLPTERKSFCTGKSDSRSESPEPGYVVTSSGLLLPVLLPRLYPPLFMLYALDNDREEDIYWECVLRLNKQPDIALLGFLGVQRKFWPATLSILGESKKVLPTTKDACFASAVECLQQISTTFTPSDKLKVIQQTFEEISQSVLASLHEDFLWSMDDLFPVFLYVVLRARIRNLGSEVHLIEDLMDPYLQHGEQGIMFTTLKACYYQIQREKLN*