ENST00000680814.1 ALS2
Information
- Transcript ID
- ENST00000680814.1
- Genome
- hg38
- Position
- chr2:201,700,592-201,781,158
- Strand
- -
- CDS length
- 4,845
- Amino acid length
- 1,615
- 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 | 201,700,592 | 201,701,138 |
| 32 | 201,704,454 | 201,704,603 |
| 31 | 201,705,139 | 201,705,200 |
| 30 | 201,705,416 | 201,705,461 |
| 29 | 201,706,846 | 201,707,022 |
| 28 | 201,707,869 | 201,707,991 |
| 27 | 201,709,881 | 201,710,038 |
| 26 | 201,710,991 | 201,711,108 |
| 25 | 201,715,672 | 201,715,839 |
| 24 | 201,718,077 | 201,718,210 |
| 23 | 201,723,043 | 201,723,120 |
| 22 | 201,723,330 | 201,723,441 |
| 21 | 201,724,295 | 201,724,459 |
| 20 | 201,725,356 | 201,725,454 |
| 19 | 201,726,484 | 201,726,549 |
| 18 | 201,726,664 | 201,726,866 |
| 17 | 201,727,212 | 201,727,278 |
| 16 | 201,727,705 | 201,727,775 |
| 15 | 201,728,512 | 201,728,640 |
| 14 | 201,729,052 | 201,729,183 |
| 13 | 201,733,276 | 201,733,438 |
| 12 | 201,738,670 | 201,738,735 |
| 11 | 201,741,674 | 201,741,854 |
| 10 | 201,744,258 | 201,744,429 |
| 9 | 201,746,566 | 201,746,748 |
| 8 | 201,749,712 | 201,749,789 |
| 7 | 201,753,146 | 201,753,242 |
| 6 | 201,754,503 | 201,754,671 |
| 5 | 201,757,402 | 201,757,759 |
| 4 | 201,760,881 | 201,761,818 |
| 3 | 201,767,229 | 201,767,383 |
| 2 | 201,768,866 | 201,768,945 |
| 1 | 201,780,877 | 201,781,158 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 33 | CDS | 201,701,132 | 201,701,138 |
| 32 | CDS | 201,704,454 | 201,704,603 |
| 31 | CDS | 201,705,139 | 201,705,200 |
| 30 | CDS | 201,705,416 | 201,705,461 |
| 29 | CDS | 201,706,846 | 201,707,022 |
| 28 | CDS | 201,707,869 | 201,707,991 |
| 27 | CDS | 201,709,881 | 201,710,038 |
| 26 | CDS | 201,710,991 | 201,711,108 |
| 25 | CDS | 201,715,672 | 201,715,839 |
| 24 | CDS | 201,718,077 | 201,718,210 |
| 23 | CDS | 201,723,043 | 201,723,120 |
| 22 | CDS | 201,723,330 | 201,723,441 |
| 21 | CDS | 201,724,295 | 201,724,459 |
| 20 | CDS | 201,725,356 | 201,725,454 |
| 19 | CDS | 201,726,484 | 201,726,549 |
| 18 | CDS | 201,726,664 | 201,726,866 |
| 17 | CDS | 201,727,212 | 201,727,278 |
| 16 | CDS | 201,727,705 | 201,727,775 |
| 15 | CDS | 201,728,512 | 201,728,640 |
| 14 | CDS | 201,729,052 | 201,729,183 |
| 13 | CDS | 201,733,276 | 201,733,438 |
| 12 | CDS | 201,738,670 | 201,738,735 |
| 11 | CDS | 201,741,674 | 201,741,854 |
| 10 | CDS | 201,744,258 | 201,744,429 |
| 9 | CDS | 201,746,566 | 201,746,748 |
| 8 | CDS | 201,749,712 | 201,749,789 |
| 7 | CDS | 201,753,146 | 201,753,242 |
| 6 | CDS | 201,754,503 | 201,754,671 |
| 5 | CDS | 201,757,402 | 201,757,759 |
| 4 | CDS | 201,760,881 | 201,761,818 |
| 3 | CDS | 201,767,229 | 201,767,383 |
| 2 | CDS | 201,768,866 | 201,768,885 |
Other genome
| Genome | Chromosome | Start | End | Links |
|---|---|---|---|---|
| hg19 | chr2 | 202,565,315 | 202,645,881 | Link |
CDS sequence
ATGGACTCAAAGAAGAGAAGCTCAACAGAGGCAGAAGGATCCAAGGAAAGAGGCCTGGTCCATATCTGGCAGGCAGGATCCTTTCCCATAACACCAGAGAGATTGCCAGGCTGGGGAGGAAAGACTGTTTTGCAGGCAGCCCTCGGAGTGAAACATGGAGTTCTTCTGACTGAAGATGGTGAGGTCTACAGCTTTGGGACTCTTCCCTGGAGAAGTGGACCAGTGGAGATTTGTCCAAGTAGCCCCATTCTAGAAAATGCCCTGGTTGGGCAATATGTTATTACTGTGGCAACAGGAAGCTTCCATAGTGGAGCAGTGACAGACAATGGTGTCGCGTACATGTGGGGAGAGAATTCTGCTGGCCAGTGTGCAGTAGCCAACCAGCAGTATGTGCCGGAACCAAATCCTGTCAGCATTGCTGATTCTGAGGCCAGCCCTTTGTTAGCAGTCAGGATTTTACAGTTGGCGTGTGGCGAGGAGCACACTCTGGCATTGTCAATAAGCAGAGAGATTTGGGCATGGGGTACCGGTTGTCAGTTGGGTCTCATTACCACTGCCTTCCCAGTGACAAAGCCGCAAAAGGTAGAACATCTTGCTGGGCGAGTGGTGCTTCAAGTTGCCTGTGGTGCTTTCCACAGCTTAGCCCTTGTACAATGCCTCCCTTCCCAGGATCTGAAGCCAGTCCCAGAACGATGCAACCAGTGCAGCCAGCTCTTGATTACTATGACTGACAAAGAAGACCATGTGATTATATCAGACAGTCATTGTTGCCCATTAGGTGTGACACTGACAGAATCTCAGGCAGAAAACCATGCCAGCACTGCTCTCAGCCCCTCCACTGAAACCCTTGACAGGCAGGAAGAAGTATTTGAGAACACTCTTGTAGCAAATGATCAGTCTGTTGCTACTGAACTGAATGCAGTAAGTGCTCAGATCACAAGCAGCGATGCCATGTCCTCTCAACAAAATGTCATGGGAACAACTGAAATTTCCTCTGCCAGAAACATACCATCATACCCTGACACCCAAGCAGTCAATGAATACCTACGGAAACTGTCAGATCATTCAGTAAGAGAGGACTCAGAGCATGGTGAAAAGCCAGTGCCATCTCAGCCTCTTTTAGAAGAAGCAATTCCTAATCTCCACAGCCCGCCTACCACAAGCACCTCAGCCCTAAACAGCCTGGTGGTCTCTTGTGCATCTGCTGTTGGTGTGAGAGTGGCTGCTACTTATGAAGCTGGTGCCTTGTCACTGAAGAAAGTTATGAACTTTTATAGTACAACCCCTTGTGAAACTGGAGCTCAGGCAGGCAGTAGTGCCATTGGCCCCGAAGGTTTGAAAGATAGCAGGGAAGAACAGGTTAAACAGGAATCAATGCAAGGAAAGAAAAGTTCAAGTCTTGTGGATATCAGAGAAGAAGAAACAGAGGGAGGCAGTCGAAGACTCTCCCTCCCTGGATTGTTGTCACAAGTTTCCCCCAGGCTCTTAAGAAAGGCTGCACGGGTGAAAACGAGGACAGTGGTTCTGACCCCCACATACAGTGGAGAAGCAGATGCGCTCCTGCCTTCTCTGAGAACAGAAGTGTGGACCTGGGGGAAAGGGAAGGAAGGGCAGCTGGGGCACGGCGATGTTCTGCCTAGGCTTCAACCGTTGTGTGTAAAATGTCTGGATGGCAAAGAAGTAATCCATCTGGAGGCAGGTGGTTACCATTCTCTTGCACTTACTGCGAAATCCCAGGTTTACTCATGGGGTAGCAATACCTTTGGTCAACTTGGGCATTCCGATTTTCCAACAACAGTTCCTCGTCTTGCAAAGATAAGCAGTGAAAATGGAGTCTGGAGCATAGCTGCAGGCAGGGATTATTCCCTGTTTTTAGTGGATACAGAAGACTTCCAGCCTGGGTTATATTACAGTGGCCGACAGGACCCTACAGAAGGTGACAACCTTCCAGAGAATCACAGTGGTTCTAAGACTCCAGTACTTCTCTCCTGTAGTAAGCTTGGATATATAAGCAGAGTGACAGCAGGAAAAGATAGCTATTTAGCCTTGGTGGATAAAAACATTATGGGGTATATTGCCAGTCTCCACGAGTTAGCTACTACAGAAAGACGATTCTATTCAAAACTAAGTGATATCAAATCTCAGATTCTCAGGCCTCTTCTCAGTTTAGAAAATTTGGGCACTACAACTACAGTCCAGCTGTTGCAGGAGGTGGCTAGCCGATTCAGCAAGCTGTGTTACCTCATTGGTCAGCATGGAGCCTCATTGAGCAGCTTCCTTCATGGGGTAAAGGAAGCCAGGAGTTTGGTCATCCTGAAGCATTCAAGTCTCTTCTTGGATAGTTATACAGAGTATTGCACATCTATTACAAATTTCCTGGTTATGGGAGGATTCCAGCTTCTTGCTAAGCCTGCCATTGATTTCCTAAATAAAAACCAAGAGCTGTTGCAAGATTTGTCAGAAGTGAATGACGAAAACACTCAGTTGATGGAAATACTGAATACTTTGTTTTTCTTGCCAATCAGACGACTTCATAATTACGCAAAAGTTTTGCTAAAGCTTGCTACTTGTTTTGAAGTGGCATCTCCAGAATATCAGAAACTGCAGGATTCCAGTTCTTGTTATGAGTGTCTTGCTCTCCATCTCGGCAGGAAAAGGAAGGAAGCAGAATACACACTGGGCTTCTGGAAGACCTTCCCCGGAAAAATGACGGATTCCTTGAGGAAGCCAGAGCGTCGACTGCTGTGTGAGAGTAGTAACCGAGCCCTGTCTCTGCAGCATGCTGGGAGGTTTTCCGTGAATTGGTTCATTCTCTTTAATGATGCCCTGGTCCATGCCCAGTTCTCCACGCACCATGTTTTCCCTCTGGCCACGCTGTGGGCAGAGCCACTGTCTGAAGAAGCTGGTGGTGTGAATGGCTTAAAGATAACTACACCTGAGGAGCAGTTCACTCTCATTTCATCTACACCCCAGGAAAAGACAAAGTGGCTACGAGCTATAAGCCAAGCCGTAGATCAGGCTTTGAGAGGGATGTCTGATCTCCCCCCTTATGGAAGTGGTAGCAGTGTTCAGAGACAGGAACCACCCATTTCACGCAGTGCCAAATATACTTTCTACAAGGATCCTCGCCTAAAGGATGCCACCTATGATGGACGCTGGCTTTCAGGGAAGCCTCATGGCAGAGGGGTTTTGAAGTGGCCTGATGGAAAGATGTATTCTGGCATGTTCAGGAATGGCTTGGAAGATGGGTATGGAGAATACAGAATCCCAAACAAGGCAATGAACAAAGAAGACCATTATGTGGGCCATTGGAAAGAAGGAAAAATGTGCGGTCAAGGAGTCTACAGCTATGCTTCTGGTGAAGTATTTGAGGGCTGTTTTCAAGATAATATGCGTCATGGTCATGGTCTTCTACGAAGTGGGAAATTGACGTCCTCTTCTCCTAGTATGTTCATTGGCCAGTGGGTAATGGATAAGAAAGCAGGATATGGTGTCTTTGATGATATCACTAGGGGGGAAAAGTATATGGGAATGTGGCAAGATGATGTGTGTCAAGGGAATGGTGTGGTGGTTACCCAGTTTGGATTATACTACGAGGGCAACTTTCACCTTAATAAAATGATGGGAAATGGGGTTTTGCTTTCCGAAGATGATACTATCTATGAAGGAGAATTTTCAGATGACTGGACTCTTAGTGGAAAGGGAACACTGACTATGCCAAATGGAGACTACATTGAAGGTTATTTTAGTGGAGAATGGGGATCTGGGATAAAAATCACTGGAACCTACTTCAAACCTAGTCTATATGAGAGTGATAAAGACAGACCTAAAGTTTTCAGGAAGCTAGGAAACCTGGCAGTGCCAGCTGATGAGAAGTGGAAAGCGGTGTTTGACGAATGTTGGCGCCAACTGGGCTGTGAGGGCCCAGGCCAAGGGGAAGTTTGGAAAGCATGGGACAATATTGCTGTGGCCTTGACCACCAGTCGGCGCCAGCACAGAGACAGTCCAGAAATACTGAGTCGTTCACAGACTCAGACACTAGAGAGTTTGGAATTCATTCCACAGCATGTTGGTGCCTTCTCTGTGGAGAAATATGATGACATCAGGAAATATTTAATAAAGGCCTGTGACACTCCTCTGCACCCCCTGGGCAGGCTTGTGGAGACACTGGTTGCAGTGTATAGAATGACATACGTGGGCGTAGGAGCCAACCGCAGGTTATTGCAGGAGGCTGTAAAGGAGATTAAGTCCTATCTTAAGCGAATTTTCCAGCTGGTGAGGTTCTTATTTCCTGAGCTGCCTGAAGAAGGCAGCACAATTCCTCTCTCTGCTCCTCTGCCAACCGAAAGGAAGTCTTTTTGCACTGGGAAGTCAGATTCCCGATCTGAATCACCAGAGCCAGGTTATGTAGTAACGAGTTCTGGATTATTGCTTCCTGTGCTGCTACCTCGGCTCTACCCACCGCTGTTTATGCTTTATGCTTTGGATAATGATCGCGAGGAAGACATTTACTGGGAATGTGTCCTTCGACTAAATAAGCAGCCAGATATTGCTCTCCTGGGCTTTCTTGGGGTGCAGAGGAAATTTTGGCCAGCAACCTTGTCAATCCTTGGAGAGAGTAAAAAGGTTTTGCCAACCACGAAAGATGCTTGTTTTGCCTCAGCAGTAGAATGTCTGCAGCAGATCAGCACAACATTTACCCCATCAGACAAACTTAAGGTCATCCAGCAGACTTTTGAGGAGATCTCTCAGAGTGTCCTGGCGTCACTCCACGAAGACTTCTTGTGGTCCATGGATGACTTGTTTCCTGTTTTCTTATATGTGGTGCTACGGGCCAGAGAGTGA
Amino sequence
MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDGEVYSFGTLPWRSGPVEICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSAGQCAVANQQYVPEPNPVSIADSEASPLLAVRILQLACGEEHTLALSISREIWAWGTGCQLGLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQCLPSQDLKPVPERCNQCSQLLITMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPSTETLDRQEEVFENTLVANDQSVATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLRKLSDHSVREDSEHGEKPVPSQPLLEEAIPNLHSPPTTSTSALNSLVVSCASAVGVRVAATYEAGALSLKKVMNFYSTTPCETGAQAGSSAIGPEGLKDSREEQVKQESMQGKKSSSLVDIREEETEGGSRRLSLPGLLSQVSPRLLRKAARVKTRTVVLTPTYSGEADALLPSLRTEVWTWGKGKEGQLGHGDVLPRLQPLCVKCLDGKEVIHLEAGGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTVPRLAKISSENGVWSIAAGRDYSLFLVDTEDFQPGLYYSGRQDPTEGDNLPENHSGSKTPVLLSCSKLGYISRVTAGKDSYLALVDKNIMGYIASLHELATTERRFYSKLSDIKSQILRPLLSLENLGTTTTVQLLQEVASRFSKLCYLIGQHGASLSSFLHGVKEARSLVILKHSSLFLDSYTEYCTSITNFLVMGGFQLLAKPAIDFLNKNQELLQDLSEVNDENTQLMEILNTLFFLPIRRLHNYAKVLLKLATCFEVASPEYQKLQDSSSCYECLALHLGRKRKEAEYTLGFWKTFPGKMTDSLRKPERRLLCESSNRALSLQHAGRFSVNWFILFNDALVHAQFSTHHVFPLATLWAEPLSEEAGGVNGLKITTPEEQFTLISSTPQEKTKWLRAISQAVDQALRGMSDLPPYGSGSSVQRQEPPISRSAKYTFYKDPRLKDATYDGRWLSGKPHGRGVLKWPDGKMYSGMFRNGLEDGYGEYRIPNKAMNKEDHYVGHWKEGKMCGQGVYSYASGEVFEGCFQDNMRHGHGLLRSGKLTSSSPSMFIGQWVMDKKAGYGVFDDITRGEKYMGMWQDDVCQGNGVVVTQFGLYYEGNFHLNKMMGNGVLLSEDDTIYEGEFSDDWTLSGKGTLTMPNGDYIEGYFSGEWGSGIKITGTYFKPSLYESDKDRPKVFRKLGNLAVPADEKWKAVFDECWRQLGCEGPGQGEVWKAWDNIAVALTTSRRQHRDSPEILSRSQTQTLESLEFIPQHVGAFSVEKYDDIRKYLIKACDTPLHPLGRLVETLVAVYRMTYVGVGANRRLLQEAVKEIKSYLKRIFQLVRFLFPELPEEGSTIPLSAPLPTERKSFCTGKSDSRSESPEPGYVVTSSGLLLPVLLPRLYPPLFMLYALDNDREEDIYWECVLRLNKQPDIALLGFLGVQRKFWPATLSILGESKKVLPTTKDACFASAVECLQQISTTFTPSDKLKVIQQTFEEISQSVLASLHEDFLWSMDDLFPVFLYVVLRARE*