ENST00000681152.1 ALS2

Information
Transcript ID
ENST00000681152.1
Genome
hg19
Position
chr2:202,586,781-202,645,601
Strand
-
CDS length
3,714
Amino acid length
1,238
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
23 202,586,781 202,587,843
22 202,588,053 202,588,164
21 202,589,018 202,589,182
20 202,590,079 202,590,177
19 202,591,207 202,591,272
18 202,591,387 202,591,589
17 202,591,935 202,592,001
16 202,592,428 202,592,498
15 202,593,235 202,593,363
14 202,593,775 202,593,906
13 202,597,999 202,598,161
12 202,603,393 202,603,458
11 202,606,397 202,606,577
10 202,608,981 202,609,152
9 202,611,289 202,611,471
8 202,614,435 202,614,512
7 202,617,869 202,617,965
6 202,619,226 202,619,394
5 202,622,125 202,622,482
4 202,625,604 202,626,541
3 202,631,952 202,632,106
2 202,633,589 202,633,668
1 202,644,702 202,645,601
CDS
Exon number Type Start Stop
23 CDS 202,587,754 202,587,843
22 CDS 202,588,053 202,588,164
21 CDS 202,589,018 202,589,182
20 CDS 202,590,079 202,590,177
19 CDS 202,591,207 202,591,272
18 CDS 202,591,387 202,591,589
17 CDS 202,591,935 202,592,001
16 CDS 202,592,428 202,592,498
15 CDS 202,593,235 202,593,363
14 CDS 202,593,775 202,593,906
13 CDS 202,597,999 202,598,161
12 CDS 202,603,393 202,603,458
11 CDS 202,606,397 202,606,577
10 CDS 202,608,981 202,609,152
9 CDS 202,611,289 202,611,471
8 CDS 202,614,435 202,614,512
7 CDS 202,617,869 202,617,965
6 CDS 202,619,226 202,619,394
5 CDS 202,622,125 202,622,482
4 CDS 202,625,604 202,626,541
3 CDS 202,631,952 202,632,106
2 CDS 202,633,589 202,633,608
Other genome
Genome Chromosome Start End Links
hg38 chr2 201,722,058 201,780,878 Link
CDS sequence
ATGGACTCAAAGAAGAGAAGCTCAACAGAGGCAGAAGGATCCAAGGAAAGAGGCCTGGTCCATATCTGGCAGGCAGGATCCTTTCCCATAACACCAGAGAGATTGCCAGGCTGGGGAGGAAAGACTGTTTTGCAGGCAGCCCTCGGAGTGAAACATGGAGTTCTTCTGACTGAAGATGGTGAGGTCTACAGCTTTGGGACTCTTCCCTGGAGAAGTGGACCAGTGGAGATTTGTCCAAGTAGCCCCATTCTAGAAAATGCCCTGGTTGGGCAATATGTTATTACTGTGGCAACAGGAAGCTTCCATAGTGGAGCAGTGACAGACAATGGTGTCGCGTACATGTGGGGAGAGAATTCTGCTGGCCAGTGTGCAGTAGCCAACCAGCAGTATGTGCCGGAACCAAATCCTGTCAGCATTGCTGATTCTGAGGCCAGCCCTTTGTTAGCAGTCAGGATTTTACAGTTGGCGTGTGGCGAGGAGCACACTCTGGCATTGTCAATAAGCAGAGAGATTTGGGCATGGGGTACCGGTTGTCAGTTGGGTCTCATTACCACTGCCTTCCCAGTGACAAAGCCGCAAAAGGTAGAACATCTTGCTGGGCGAGTGGTGCTTCAAGTTGCCTGTGGTGCTTTCCACAGCTTAGCCCTTGTACAATGCCTCCCTTCCCAGGATCTGAAGCCAGTCCCAGAACGATGCAACCAGTGCAGCCAGCTCTTGATTACTATGACTGACAAAGAAGACCATGTGATTATATCAGACAGTCATTGTTGCCCATTAGGTGTGACACTGACAGAATCTCAGGCAGAAAACCATGCCAGCACTGCTCTCAGCCCCTCCACTGAAACCCTTGACAGGCAGGAAGAAGTATTTGAGAACACTCTTGTAGCAAATGATCAGTCTGTTGCTACTGAACTGAATGCAGTAAGTGCTCAGATCACAAGCAGCGATGCCATGTCCTCTCAACAAAATGTCATGGGAACAACTGAAATTTCCTCTGCCAGAAACATACCATCATACCCTGACACCCAAGCAGTCAATGAATACCTACGGAAACTGTCAGATCATTCAGTAAGAGAGGACTCAGAGCATGGTGAAAAGCCAGTGCCATCTCAGCCTCTTTTAGAAGAAGCAATTCCTAATCTCCACAGCCCGCCTACCACAAGCACCTCAGCCCTAAACAGCCTGGTGGTCTCTTGTGCATCTGCTGTTGGTGTGAGAGTGGCTGCTACTTATGAAGCTGGTGCCTTGTCACTGAAGAAAGTTATGAACTTTTATAGTACAACCCCTTGTGAAACTGGAGCTCAGGCAGGCAGTAGTGCCATTGGCCCCGAAGGTTTGAAAGATAGCAGGGAAGAACAGGTTAAACAGGAATCAATGCAAGGAAAGAAAAGTTCAAGTCTTGTGGATATCAGAGAAGAAGAAACAGAGGGAGGCAGTCGAAGACTCTCCCTCCCTGGATTGTTGTCACAAGTTTCCCCCAGGCTCTTAAGAAAGGCTGCACGGGTGAAAACGAGGACAGTGGTTCTGACCCCCACATACAGTGGAGAAGCAGATGCGCTCCTGCCTTCTCTGAGAACAGAAGTGTGGACCTGGGGGAAAGGGAAGGAAGGGCAGCTGGGGCACGGCGATGTTCTGCCTAGGCTTCAACCGTTGTGTGTAAAATGTCTGGATGGCAAAGAAGTAATCCATCTGGAGGCAGGTGGTTACCATTCTCTTGCACTTACTGCGAAATCCCAGGTTTACTCATGGGGTAGCAATACCTTTGGTCAACTTGGGCATTCCGATTTTCCAACAACAGTTCCTCGTCTTGCAAAGATAAGCAGTGAAAATGGAGTCTGGAGCATAGCTGCAGGCAGGGATTATTCCCTGTTTTTAGTGGATACAGAAGACTTCCAGCCTGGGTTATATTACAGTGGCCGACAGGACCCTACAGAAGGTGACAACCTTCCAGAGAATCACAGTGGTTCTAAGACTCCAGTACTTCTCTCCTGTAGTAAGCTTGGATATATAAGCAGAGTGACAGCAGGAAAAGATAGCTATTTAGCCTTGGTGGATAAAAACATTATGGGGTATATTGCCAGTCTCCACGAGTTAGCTACTACAGAAAGACGATTCTATTCAAAACTAAGTGATATCAAATCTCAGATTCTCAGGCCTCTTCTCAGTTTAGAAAATTTGGGCACTACAACTACAGTCCAGCTGTTGCAGGAGGTGGCTAGCCGATTCAGCAAGCTGTGTTACCTCATTGGTCAGCATGGAGCCTCATTGAGCAGCTTCCTTCATGGGGTAAAGGAAGCCAGGAGTTTGGTCATCCTGAAGCATTCAAGTCTCTTCTTGGATAGTTATACAGAGTATTGCACATCTATTACAAATTTCCTGGTTATGGGAGGATTCCAGCTTCTTGCTAAGCCTGCCATTGATTTCCTAAATAAAAACCAAGAGCTGTTGCAAGATTTGTCAGAAGTGAATGACGAAAACACTCAGTTGATGGAAATACTGAATACTTTGTTTTTCTTGCCAATCAGACGACTTCATAATTACGCAAAAGTTTTGCTAAAGCTTGCTACTTGTTTTGAAGTGGCATCTCCAGAATATCAGAAACTGCAGGATTCCAGTTCTTGTTATGAGTGTCTTGCTCTCCATCTCGGCAGGAAAAGGAAGGAAGCAGAATACACACTGGGCTTCTGGAAGACCTTCCCCGGAAAAATGACGGATTCCTTGAGGAAGCCAGAGCGTCGACTGCTGTGTGAGAGTAGTAACCGAGCCCTGTCTCTGCAGCATGCTGGGAGGTTTTCCGTGAATTGGTTCATTCTCTTTAATGATGCCCTGGTCCATGCCCAGTTCTCCACGCACCATGTTTTCCCTCTGGCCACGCTGTGGGCAGAGCCACTGTCTGAAGAAGCTGGTGGTGTGAATGGCTTAAAGATAACTACACCTGAGGAGCAGTTCACTCTCATTTCATCTACACCCCAGGAAAAGACAAAGTGGCTACGAGCTATAAGCCAAGCCGTAGATCAGGCTTTGAGAGGGATGTCTGATCTCCCCCCTTATGGAAGTGGTAGCAGTGTTCAGAGACAGGAACCACCCATTTCACGCAGTGCCAAATATACTTTCTACAAGGATCCTCGCCTAAAGGATGCCACCTATGATGGACGCTGGCTTTCAGGGAAGCCTCATGGCAGAGGGGTTTTGAAGTGGCCTGATGGAAAGATGTATTCTGGCATGTTCAGGAATGGCTTGGAAGATGGGTATGGAGAATACAGAATCCCAAACAAGGCAATGAACAAAGAAGACCATTATGTGGGCCATTGGAAAGAAGGAAAAATGTGCGGTCAAGGAGTCTACAGCTATGCTTCTGGTGAAGTATTTGAGGGCTGTTTTCAAGATAATATGCGTCATGGTCATGGTCTTCTACGAAGTGGGAAATTGACGTCCTCTTCTCCTAGTATGTTCATTGGCCAGTGGGTAATGGATAAGAAAGCAGGATATGGTGTCTTTGATGATATCACTAGGGGGGAAAAGTATATGGGAATGTGGCAAGATGATGTGTGTCAAGGGAATGGTGTGGTGGTTACCCAGTTTGGATTATACTACGAGGGCAACTTTCACCTTAATAAAATGATGGGAAATGGGGTTTTGCTTTCCGAAGATGATACTATCTATGAAGGAGAATTTTCAGATGACTGGACTCTTAGTGGAAAGGTTGGAAACTAG
Amino sequence
MDSKKRSSTEAEGSKERGLVHIWQAGSFPITPERLPGWGGKTVLQAALGVKHGVLLTEDGEVYSFGTLPWRSGPVEICPSSPILENALVGQYVITVATGSFHSGAVTDNGVAYMWGENSAGQCAVANQQYVPEPNPVSIADSEASPLLAVRILQLACGEEHTLALSISREIWAWGTGCQLGLITTAFPVTKPQKVEHLAGRVVLQVACGAFHSLALVQCLPSQDLKPVPERCNQCSQLLITMTDKEDHVIISDSHCCPLGVTLTESQAENHASTALSPSTETLDRQEEVFENTLVANDQSVATELNAVSAQITSSDAMSSQQNVMGTTEISSARNIPSYPDTQAVNEYLRKLSDHSVREDSEHGEKPVPSQPLLEEAIPNLHSPPTTSTSALNSLVVSCASAVGVRVAATYEAGALSLKKVMNFYSTTPCETGAQAGSSAIGPEGLKDSREEQVKQESMQGKKSSSLVDIREEETEGGSRRLSLPGLLSQVSPRLLRKAARVKTRTVVLTPTYSGEADALLPSLRTEVWTWGKGKEGQLGHGDVLPRLQPLCVKCLDGKEVIHLEAGGYHSLALTAKSQVYSWGSNTFGQLGHSDFPTTVPRLAKISSENGVWSIAAGRDYSLFLVDTEDFQPGLYYSGRQDPTEGDNLPENHSGSKTPVLLSCSKLGYISRVTAGKDSYLALVDKNIMGYIASLHELATTERRFYSKLSDIKSQILRPLLSLENLGTTTTVQLLQEVASRFSKLCYLIGQHGASLSSFLHGVKEARSLVILKHSSLFLDSYTEYCTSITNFLVMGGFQLLAKPAIDFLNKNQELLQDLSEVNDENTQLMEILNTLFFLPIRRLHNYAKVLLKLATCFEVASPEYQKLQDSSSCYECLALHLGRKRKEAEYTLGFWKTFPGKMTDSLRKPERRLLCESSNRALSLQHAGRFSVNWFILFNDALVHAQFSTHHVFPLATLWAEPLSEEAGGVNGLKITTPEEQFTLISSTPQEKTKWLRAISQAVDQALRGMSDLPPYGSGSSVQRQEPPISRSAKYTFYKDPRLKDATYDGRWLSGKPHGRGVLKWPDGKMYSGMFRNGLEDGYGEYRIPNKAMNKEDHYVGHWKEGKMCGQGVYSYASGEVFEGCFQDNMRHGHGLLRSGKLTSSSPSMFIGQWVMDKKAGYGVFDDITRGEKYMGMWQDDVCQGNGVVVTQFGLYYEGNFHLNKMMGNGVLLSEDDTIYEGEFSDDWTLSGKVGN*