ENST00000680287.1 ALS2
Information
- Transcript ID
- ENST00000680287.1
- Genome
- hg38
- Position
- chr2:201,741,184-201,780,956
- Strand
- -
- CDS length
- 2,439
- Amino acid length
- 813
- 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 |
|---|---|---|
| 11 | 201,741,184 | 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 | 201,780,956 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 11 | CDS | 201,741,586 | 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 | 202,605,907 | 202,645,679 | Link |
CDS sequence
ATGGACTCAAAGAAGAGAAGCTCAACAGAGGCAGAAGGATCCAAGGAAAGAGGCCTGGTCCATATCTGGCAGGCAGGATCCTTTCCCATAACACCAGAGAGATTGCCAGGCTGGGGAGGAAAGACTGTTTTGCAGGCAGCCCTCGGAGTGAAACATGGAGTTCTTCTGACTGAAGATGGTGAGGTCTACAGCTTTGGGACTCTTCCCTGGAGAAGTGGACCAGTGGAGATTTGTCCAAGTAGCCCCATTCTAGAAAATGCCCTGGTTGGGCAATATGTTATTACTGTGGCAACAGGAAGCTTCCATAGTGGAGCAGTGACAGACAATGGTGTCGCGTACATGTGGGGAGAGAATTCTGCTGGCCAGTGTGCAGTAGCCAACCAGCAGTATGTGCCGGAACCAAATCCTGTCAGCATTGCTGATTCTGAGGCCAGCCCTTTGTTAGCAGTCAGGATTTTACAGTTGGCGTGTGGCGAGGAGCACACTCTGGCATTGTCAATAAGCAGAGAGATTTGGGCATGGGGTACCGGTTGTCAGTTGGGTCTCATTACCACTGCCTTCCCAGTGACAAAGCCGCAAAAGGTAGAACATCTTGCTGGGCGAGTGGTGCTTCAAGTTGCCTGTGGTGCTTTCCACAGCTTAGCCCTTGTACAATGCCTCCCTTCCCAGGATCTGAAGCCAGTCCCAGAACGATGCAACCAGTGCAGCCAGCTCTTGATTACTATGACTGACAAAGAAGACCATGTGATTATATCAGACAGTCATTGTTGCCCATTAGGTGTGACACTGACAGAATCTCAGGCAGAAAACCATGCCAGCACTGCTCTCAGCCCCTCCACTGAAACCCTTGACAGGCAGGAAGAAGTATTTGAGAACACTCTTGTAGCAAATGATCAGTCTGTTGCTACTGAACTGAATGCAGTAAGTGCTCAGATCACAAGCAGCGATGCCATGTCCTCTCAACAAAATGTCATGGGAACAACTGAAATTTCCTCTGCCAGAAACATACCATCATACCCTGACACCCAAGCAGTCAATGAATACCTACGGAAACTGTCAGATCATTCAGTAAGAGAGGACTCAGAGCATGGTGAAAAGCCAGTGCCATCTCAGCCTCTTTTAGAAGAAGCAATTCCTAATCTCCACAGCCCGCCTACCACAAGCACCTCAGCCCTAAACAGCCTGGTGGTCTCTTGTGCATCTGCTGTTGGTGTGAGAGTGGCTGCTACTTATGAAGCTGGTGCCTTGTCACTGAAGAAAGTTATGAACTTTTATAGTACAACCCCTTGTGAAACTGGAGCTCAGGCAGGCAGTAGTGCCATTGGCCCCGAAGGTTTGAAAGATAGCAGGGAAGAACAGGTTAAACAGGAATCAATGCAAGGAAAGAAAAGTTCAAGTCTTGTGGATATCAGAGAAGAAGAAACAGAGGGAGGCAGTCGAAGACTCTCCCTCCCTGGATTGTTGTCACAAGTTTCCCCCAGGCTCTTAAGAAAGGCTGCACGGGTGAAAACGAGGACAGTGGTTCTGACCCCCACATACAGTGGAGAAGCAGATGCGCTCCTGCCTTCTCTGAGAACAGAAGTGTGGACCTGGGGGAAAGGGAAGGAAGGGCAGCTGGGGCACGGCGATGTTCTGCCTAGGCTTCAACCGTTGTGTGTAAAATGTCTGGATGGCAAAGAAGTAATCCATCTGGAGGCAGGTGGTTACCATTCTCTTGCACTTACTGCGAAATCCCAGGTTTACTCATGGGGTAGCAATACCTTTGGTCAACTTGGGCATTCCGATTTTCCAACAACAGTTCCTCGTCTTGCAAAGATAAGCAGTGAAAATGGAGTCTGGAGCATAGCTGCAGGCAGGGATTATTCCCTGTTTTTAGTGGATACAGAAGACTTCCAGCCTGGGTTATATTACAGTGGCCGACAGGACCCTACAGAAGGTGACAACCTTCCAGAGAATCACAGTGGTTCTAAGACTCCAGTACTTCTCTCCTGTAGTAAGCTTGGATATATAAGCAGAGTGACAGCAGGAAAAGATAGCTATTTAGCCTTGGTGGATAAAAACATTATGGGGTATATTGCCAGTCTCCACGAGTTAGCTACTACAGAAAGACGATTCTATTCAAAACTAAGTGATATCAAATCTCAGATTCTCAGGCCTCTTCTCAGTTTAGAAAATTTGGGCACTACAACTACAGTCCAGCTGTTGCAGGAGGTGGCTAGCCGATTCAGCAAGCTGTGTTACCTCATTGGTCAGCATGGAGCCTCATTGAGCAGCTTCCTTCATGGGGTAAAGGAAGCCAGGAGTTTGGTCATCCTGAAGCATTCAAGTCTCTTCTTGGATAGTTATACAGAGCAAGTATCCAGTCCCGTGTCATGTTCAATCTCTGCAGGGTTATTCTGCCAAGGAGAACAGCTCCTTAATCAGAAGAGACTAGATTAG
Amino sequence
MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDGEVYSFGTLPWRSGPVEICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSAGQCAVANQQYVPEPNPVSIADSEASPLLAVRILQLACGEEHTLALSISREIWAWGTGCQLGLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQCLPSQDLKPVPERCNQCSQLLITMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPSTETLDRQEEVFENTLVANDQSVATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLRKLSDHSVREDSEHGEKPVPSQPLLEEAIPNLHSPPTTSTSALNSLVVSCASAVGVRVAATYEAGALSLKKVMNFYSTTPCETGAQAGSSAIGPEGLKDSREEQVKQESMQGKKSSSLVDIREEETEGGSRRLSLPGLLSQVSPRLLRKAARVKTRTVVLTPTYSGEADALLPSLRTEVWTWGKGKEGQLGHGDVLPRLQPLCVKCLDGKEVIHLEAGGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTVPRLAKISSENGVWSIAAGRDYSLFLVDTEDFQPGLYYSGRQDPTEGDNLPENHSGSKTPVLLSCSKLGYISRVTAGKDSYLALVDKNIMGYIASLHELATTERRFYSKLSDIKSQILRPLLSLENLGTTTTVQLLQEVASRFSKLCYLIGQHGASLSSFLHGVKEARSLVILKHSSLFLDSYTEQVSSPVSCSISAGLFCQGEQLLNQKRLD*