ENST00000673283.1 ATXN2

Information
Transcript ID
ENST00000673283.1
Genome
hg38
Position
chr12:111,452,529-111,599,079
Strand
-
CDS length
3,198
Amino acid length
1,066
Gene symbol
ATXN2
Gene type
protein-coding
Gene description
ataxin 2
Gene Entrez Gene ID
6311
Variants

Display target variant


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Target data :
MGeND data only
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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 :
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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 :
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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
23 111,452,529 111,452,840
22 111,453,677 111,453,845
21 111,456,029 111,456,256
20 111,457,214 111,457,359
19 111,470,108 111,470,240
18 111,470,558 111,470,742
17 111,485,271 111,485,331
16 111,485,713 111,485,865
15 111,486,761 111,486,824
14 111,488,476 111,488,780
13 111,509,549 111,509,619
12 111,509,891 111,509,998
11 111,510,385 111,510,582
10 111,513,357 111,513,539
9 111,518,249 111,518,427
8 111,519,879 111,520,076
7 111,520,882 111,520,973
6 111,525,192 111,525,316
5 111,552,280 111,552,430
4 111,552,906 111,552,977
3 111,554,158 111,554,217
2 111,555,883 111,555,919
1 111,598,784 111,599,079
CDS
Exon number Type Start Stop
23 CDS 111,452,812 111,452,840
22 CDS 111,453,677 111,453,845
21 CDS 111,456,029 111,456,256
20 CDS 111,457,214 111,457,359
19 CDS 111,470,108 111,470,240
18 CDS 111,470,558 111,470,742
17 CDS 111,485,271 111,485,331
16 CDS 111,485,713 111,485,865
15 CDS 111,486,761 111,486,824
14 CDS 111,488,476 111,488,780
13 CDS 111,509,549 111,509,619
12 CDS 111,509,891 111,509,998
11 CDS 111,510,385 111,510,582
10 CDS 111,513,357 111,513,539
9 CDS 111,518,249 111,518,427
8 CDS 111,519,879 111,520,076
7 CDS 111,520,882 111,520,973
6 CDS 111,525,192 111,525,316
5 CDS 111,552,280 111,552,430
4 CDS 111,552,906 111,552,977
3 CDS 111,554,158 111,554,217
2 CDS 111,555,883 111,555,919
1 CDS 111,598,784 111,599,034
Other genome
Genome Chromosome Start End Links
hg19 chr12 111,890,333 112,036,883 Link
CDS sequence
ATGTCGCTGAAGCCCCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCCGCCGCCCGCGGCTGCCAATGTCCGCAAGCCCGGCGGCAGCGGCCTTCTAGCGTCGCCCGCCGCCGCGCCTTCGCCGTCCTCGTCCTCGGTCTCCTCGTCCTCGGCCACGGCTCCCTCCTCGGTGGTCGCGGCGACCTCCGGCGGCGGGAGGCCCGGCCTGGGCAGAGGTCGAAACAGTAACAAAGGACTGCCTCAGTCTACGATTTCTTTTGATGGAATCTATGCAAATATGAGGATGGTTCATATACTTACATCAGTTGTTGGCTCCAAATGTGAAGTACAAGTGAAAAATGGAGGTATATATGAAGGAGTTTTTAAAACTTACAGTCCGAAGTGTGATTTGGTACTTGATGCCGCACATGAGAAAAGTACAGAATCCAGTTCGGGGCCGAAACGTGAAGAAATAATGGAGAGTATTTTGTTCAAATGTTCAGACTTTGTTGTGGTACAGTTTAAAGATATGGACTCCAGTTATGCAAAAAGAGATGCTTTTACTGACTCTGCTATCAGTGCTAAAGTGAATGGCGAACACAAAGAGAAGGACCTGGAGCCCTGGGATGCAGGTGAACTCACAGCCAATGAGGAACTTGAGGCTTTGGAAAATGACGTATCTAATGGATGGGATCCCAATGATATGTTTCGATATAATGAAGAAAATTATGGTGTAGTGTCTACGTATGATAGCAGTTTATCTTCGTATACAGTGCCCTTAGAAAGAGATAACTCAGAAGAATTTTTAAAACGGGAAGCAAGGGCAAACCAGTTAGCAGAAGAAATTGAGTCAAGTGCCCAGTACAAAGCTCGAGTGGCCCTGGAAAATGATGATAGGAGTGAGGAAGAAAAATACACAGCAGTTCAGAGAAATTCCAGTGAACGTGAGGGGCACAGCATAAACACTAGGGAAAATAAATATATTCCTCCTGGACAAAGAAATAGAGAAGTCATATCCTGGGGAAGTGGGAGACAGAATTCACCGCGTATGGGCCAGCCTGGATCGGGCTCCATGCCATCAAGATCCACTTCTCACACTTCAGATTTCAACCCGAATTCTGGTTCAGACCAAAGAGTAGTTAATGGAGGGCCTCCAAGGATGTCCCCAAAGGCCCAGCGACATCCTCGAAATCACAGAGTTTCTGCTGGGAGGGGTTCCATATCCAGTGGCCTAGAATTTGTATCCCACAACCCACCCAGTGAAGCAGCTACTCCTCCAGTAGCAAGGACCAGTCCCTCGGGGGGAACGTGGTCATCAGTGGTCAGTGGGGTTCCAAGATTATCCCCTAAAACTCATAGACCCAGGTCTCCCAGACAGAACAGTATTGGAAATACCCCCAGTGGGCCAGTTCTTGCTTCTCCCCAAGCTGGTATTATTCCAACTGAAGCTGTTGCCATGCCTATTCCAGCTGCATCTCCTACGCCTGCTAGTCCTGCATCGAACAGAGCTGTTACCCCTTCTAGTGAGGCTAAAGATTCCAGGCTTCAAGATCAGAGGCAGAACTCTCCTGCAGGGAATAAAGAAAATATTAAACCCAATGAAACATCACCTAGCTTCTCAAAAGCTGAAAACAAAGGTATATCACCAGTTGTTTCTGAACATAGAAAACAGATTGATGATTTAAAGAAATTTAAGAATGATTTTAGGTTACAGCCAAGTTCTACTTCTGAATCTATGGATCAACTACTAAACAAAAATAGAGAGGGAGAAAAATCAAGAGATTTGATCAAAGACAAAATTGAACCAAGTGCTAAGGATTCTTTCATTGAAAATAGCAGCAGCAACTGTACCAGTGGCAGCAGCAAGCCGAATAGCCCCAGCATTTCCCCTTCAATACTTAGTAACACGGAGCACAAGAGGGGACCTGAGGTCACTTCCCAAGGGGTTCAGACTTCCAGCCCAGCATGTAAACAAGAGAAAGACGATAAGGAAGAGAAGAAAGACGCAGCTGAGCAAGTTAGGAAATCAACATTGAATCCCAATGCAAAGGAGTTCAACCCACGTTCCTTCTCTCAGCCAAAGCCTTCTACTACCCCAACTTCACCTCGGCCTCAAGCACAACCTAGCCCATCTATGGTGGGTCATCAACAGCCAACTCCAGTTTATACTCAGCCTGTTTGTTTTGCACCAAATATGATGTATCCAGTCCCAGTGAGCCCAGGCGTGCAACCTTTATACCCAATACCTATGACGCCCATGCCAGTGAATCAAGCCAAGACATATAGAGCAGTACCAAATATGCCCCAACAGCGGCAAGACCAGCATCATCAGAGTGCCATGATGCACCCAGCGTCAGCAGCGGGCCCACCGATTGCAGCCACCCCACCAGCTTACTCCACGCAATATGTTGCCTACAGTCCTCAGCAGTTCCCAAATCAGCCCCTTGTTCAGCATGTGCCACATTATCAGTCTCAGCATCCTCATGTCTATAGTCCTGTAATACAGGGTAATGCTAGAATGATGGCACCACCAACACACGCCCAGCCTGGTTTAGTATCTTCTTCAGCAACTCAGTACGGGGCTCATGAGCAGACGCATGCGATGTATGTTTCCACGGGCTCCCTTGCTCAGCAGTATGCGCACCCTAACGCTACCCTGCACCCACATACTCCACACCCTCAGCCTTCAGCTACCCCCACTGGACAGCAGCAAAGCCAACATGGTGGAAGTCATCCTGCACCCAGTCCTGTTCAGCACCATCAGCACCAGGCCGCCCAGGCTCTCCATCTGGCCAGTCCACAGCAGCAGTCAGCCATTTACCACGCGGGGCTTGCGCCAACTCCACCCTCCATGACACCTGCCTCCAACACGCAGTCGCCACAGAATAGTTTCCCAGCAGCACAACAGACTGTCTTTACGATCCATCCTTCTCACGTTCAGCCGGCGTATACCAACCCACCCCACATGGCCCACGTACCTCAGGCTCATGTACAGTCAGGAATGGTTCCTTCTCATCCAACTGCCCATGCGCCAATGATGCTAATGACGACACAGCCACCCGGCGGTCCCCAGGCCGCCCTCGCTCAAAGTGCACTACAGCCCATTCCAGTCTCGACAACAGCGCATTTCCCCTATATGACGCACCCTTCAGTACAAGCCCACCACCAACAGCAGTTGTAA
Amino sequence
MSLKPQQQQQQQQQQQQQQQQQQQQQQQPPPAAANVRKPGGSGLLASPAAAPSPSSSSVSSSSATAPSSVVAATSGGGRPGLGRGRNSNKGLPQSTISFDGIYANMRMVHILTSVVGSKCEVQVKNGGIYEGVFKTYSPKCDLVLDAAHEKSTESSSGPKREEIMESILFKCSDFVVVQFKDMDSSYAKRDAFTDSAISAKVNGEHKEKDLEPWDAGELTANEELEALENDVSNGWDPNDMFRYNEENYGVVSTYDSSLSSYTVPLERDNSEEFLKREARANQLAEEIESSAQYKARVALENDDRSEEEKYTAVQRNSSEREGHSINTRENKYIPPGQRNREVISWGSGRQNSPRMGQPGSGSMPSRSTSHTSDFNPNSGSDQRVVNGGPPRMSPKAQRHPRNHRVSAGRGSISSGLEFVSHNPPSEAATPPVARTSPSGGTWSSVVSGVPRLSPKTHRPRSPRQNSIGNTPSGPVLASPQAGIIPTEAVAMPIPAASPTPASPASNRAVTPSSEAKDSRLQDQRQNSPAGNKENIKPNETSPSFSKAENKGISPVVSEHRKQIDDLKKFKNDFRLQPSSTSESMDQLLNKNREGEKSRDLIKDKIEPSAKDSFIENSSSNCTSGSSKPNSPSISPSILSNTEHKRGPEVTSQGVQTSSPACKQEKDDKEEKKDAAEQVRKSTLNPNAKEFNPRSFSQPKPSTTPTSPRPQAQPSPSMVGHQQPTPVYTQPVCFAPNMMYPVPVSPGVQPLYPIPMTPMPVNQAKTYRAVPNMPQQRQDQHHQSAMMHPASAAGPPIAATPPAYSTQYVAYSPQQFPNQPLVQHVPHYQSQHPHVYSPVIQGNARMMAPPTHAQPGLVSSSATQYGAHEQTHAMYVSTGSLAQQYAHPNATLHPHTPHPQPSATPTGQQQSQHGGSHPAPSPVQHHQHQAAQALHLASPQQQSAIYHAGLAPTPPSMTPASNTQSPQNSFPAAQQTVFTIHPSHVQPAYTNPPHMAHVPQAHVQSGMVPSHPTAHAPMMLMTTQPPGGPQAALAQSALQPIPVSTTAHFPYMTHPSVQAHHQQQL*