ENST00000679939.1 ALS2
Information
- Transcript ID
- ENST00000679939.1
- Genome
- hg19
- Position
- chr2:202,605,333-202,633,885
- 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 |
|---|---|---|
| 10 | 202,605,333 | 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 | 202,633,885 |
CDS
| Exon number | Type | Start | Stop |
|---|---|---|---|
| 10 | CDS | 202,606,309 | 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 | 201,740,610 | 201,769,162 | Link |
CDS sequence
ATGGACTCAAAGAAGAGAAGCTCAACAGAGGCAGAAGGATCCAAGGAAAGAGGCCTGGTCCATATCTGGCAGGCAGGATCCTTTCCCATAACACCAGAGAGATTGCCAGGCTGGGGAGGAAAGACTGTTTTGCAGGCAGCCCTCGGAGTGAAACATGGAGTTCTTCTGACTGAAGATGGTGAGGTCTACAGCTTTGGGACTCTTCCCTGGAGAAGTGGACCAGTGGAGATTTGTCCAAGTAGCCCCATTCTAGAAAATGCCCTGGTTGGGCAATATGTTATTACTGTGGCAACAGGAAGCTTCCATAGTGGAGCAGTGACAGACAATGGTGTCGCGTACATGTGGGGAGAGAATTCTGCTGGCCAGTGTGCAGTAGCCAACCAGCAGTATGTGCCGGAACCAAATCCTGTCAGCATTGCTGATTCTGAGGCCAGCCCTTTGTTAGCAGTCAGGATTTTACAGTTGGCGTGTGGCGAGGAGCACACTCTGGCATTGTCAATAAGCAGAGAGATTTGGGCATGGGGTACCGGTTGTCAGTTGGGTCTCATTACCACTGCCTTCCCAGTGACAAAGCCGCAAAAGGTAGAACATCTTGCTGGGCGAGTGGTGCTTCAAGTTGCCTGTGGTGCTTTCCACAGCTTAGCCCTTGTACAATGCCTCCCTTCCCAGGATCTGAAGCCAGTCCCAGAACGATGCAACCAGTGCAGCCAGCTCTTGATTACTATGACTGACAAAGAAGACCATGTGATTATATCAGACAGTCATTGTTGCCCATTAGGTGTGACACTGACAGAATCTCAGGCAGAAAACCATGCCAGCACTGCTCTCAGCCCCTCCACTGAAACCCTTGACAGGCAGGAAGAAGTATTTGAGAACACTCTTGTAGCAAATGATCAGTCTGTTGCTACTGAACTGAATGCAGTAAGTGCTCAGATCACAAGCAGCGATGCCATGTCCTCTCAACAAAATGTCATGGGAACAACTGAAATTTCCTCTGCCAGAAACATACCATCATACCCTGACACCCAAGCAGTCAATGAATACCTACGGAAACTGTCAGATCATTCAGTAAGAGAGGACTCAGAGCATGGTGAAAAGCCAGTGCCATCTCAGCCTCTTTTAGAAGAAGCAATTCCTAATCTCCACAGCCCGCCTACCACAAGCACCTCAGCCCTAAACAGCCTGGTGGTCTCTTGTGCATCTGCTGTTGGTGTGAGAGTGGCTGCTACTTATGAAGCTGGTGCCTTGTCACTGAAGAAAGTTATGAACTTTTATAGTACAACCCCTTGTGAAACTGGAGCTCAGGCAGGCAGTAGTGCCATTGGCCCCGAAGGTTTGAAAGATAGCAGGGAAGAACAGGTTAAACAGGAATCAATGCAAGGAAAGAAAAGTTCAAGTCTTGTGGATATCAGAGAAGAAGAAACAGAGGGAGGCAGTCGAAGACTCTCCCTCCCTGGATTGTTGTCACAAGTTTCCCCCAGGCTCTTAAGAAAGGCTGCACGGGTGAAAACGAGGACAGTGGTTCTGACCCCCACATACAGTGGAGAAGCAGATGCGCTCCTGCCTTCTCTGAGAACAGAAGTGTGGACCTGGGGGAAAGGGAAGGAAGGGCAGCTGGGGCACGGCGATGTTCTGCCTAGGCTTCAACCGTTGTGTGTAAAATGTCTGGATGGCAAAGAAGTAATCCATCTGGAGGCAGGTGGTTACCATTCTCTTGCACTTACTGCGAAATCCCAGGTTTACTCATGGGGTAGCAATACCTTTGGTCAACTTGGGCATTCCGATTTTCCAACAACAGTTCCTCGTCTTGCAAAGATAAGCAGTGAAAATGGAGTCTGGAGCATAGCTGCAGGCAGGGATTATTCCCTGTTTTTAGTGGATACAGAAGACTTCCAGCCTGGGTTATATTACAGTGGCCGACAGGACCCTACAGAAGGTGACAACCTTCCAGAGAATCACAGTGGTTCTAAGACTCCAGTACTTCTCTCCTGTAGTAAGCTTGGATATATAAGCAGAGTGACAGCAGGAAAAGATAGCTATTTAGCCTTGGTGGATAAAAACATTATGGGGTATATTGCCAGTCTCCACGAGTTAGCTACTACAGAAAGACGATTCTATTCAAAACTAAGTGATATCAAATCTCAGATTCTCAGGCCTCTTCTCAGTTTAGAAAATTTGGGCACTACAACTACAGTCCAGCTGTTGCAGGAGGTGGCTAGCCGATTCAGCAAGCTGTGTTACCTCATTGGTCAGCATGGAGCCTCATTGAGCAGCTTCCTTCATGGGGTAAAGGAAGCCAGGAGTTTGGTCATCCTGAAGCATTCAAGTCTCTTCTTGGATAGTTATACAGAGCAAGTATCCAGTCCCGTGTCATGTTCAATCTCTGCAGGGTTATTCTGCCAAGGAGAACAGCTCCTTAATCAGAAGAGACTAGATTAG
Amino sequence
MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDGEVYSFGTLPWRSGPVEICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSAGQCAVANQQYVPEPNPVSIADSEASPLLAVRILQLACGEEHTLALSISREIWAWGTGCQLGLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQCLPSQDLKPVPERCNQCSQLLITMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPSTETLDRQEEVFENTLVANDQSVATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLRKLSDHSVREDSEHGEKPVPSQPLLEEAIPNLHSPPTTSTSALNSLVVSCASAVGVRVAATYEAGALSLKKVMNFYSTTPCETGAQAGSSAIGPEGLKDSREEQVKQESMQGKKSSSLVDIREEETEGGSRRLSLPGLLSQVSPRLLRKAARVKTRTVVLTPTYSGEADALLPSLRTEVWTWGKGKEGQLGHGDVLPRLQPLCVKCLDGKEVIHLEAGGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTVPRLAKISSENGVWSIAAGRDYSLFLVDTEDFQPGLYYSGRQDPTEGDNLPENHSGSKTPVLLSCSKLGYISRVTAGKDSYLALVDKNIMGYIASLHELATTERRFYSKLSDIKSQILRPLLSLENLGTTTTVQLLQEVASRFSKLCYLIGQHGASLSSFLHGVKEARSLVILKHSSLFLDSYTEQVSSPVSCSISAGLFCQGEQLLNQKRLD*