ENST00000303843.7 REPS2

Information
Transcript ID
ENST00000303843.7
Genome
hg38
Position
chrX:16,946,862-17,153,272
Strand
+
CDS length
1,980
Amino acid length
660
Gene symbol
REPS2
Gene type
protein-coding
Gene description
RALBP1 associated Eps domain containing 2
Gene Entrez Gene ID
9185
Variants

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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
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MGeND data only
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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
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Target data :
MGeND data only
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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
1 16,946,862 16,947,134
2 17,006,221 17,006,344
3 17,022,123 17,022,271
4 17,025,062 17,025,185
5 17,029,526 17,029,623
6 17,047,347 17,047,482
7 17,052,382 17,052,445
8 17,054,808 17,054,950
9 17,062,438 17,062,532
10 17,068,402 17,068,471
11 17,069,940 17,069,993
12 17,074,114 17,074,159
13 17,077,271 17,077,407
14 17,103,718 17,103,779
15 17,133,824 17,133,907
16 17,135,261 17,135,406
17 17,138,856 17,138,961
18 17,147,413 17,153,272
CDS
Exon number Type Start Stop
1 CDS 16,946,862 16,947,134
2 CDS 17,006,221 17,006,344
3 CDS 17,022,123 17,022,271
4 CDS 17,025,062 17,025,185
5 CDS 17,029,526 17,029,623
6 CDS 17,047,347 17,047,482
7 CDS 17,052,382 17,052,445
8 CDS 17,054,808 17,054,950
9 CDS 17,062,438 17,062,532
10 CDS 17,068,402 17,068,471
11 CDS 17,069,940 17,069,993
12 CDS 17,074,114 17,074,159
13 CDS 17,077,271 17,077,407
14 CDS 17,103,718 17,103,779
15 CDS 17,133,824 17,133,907
16 CDS 17,135,261 17,135,406
17 CDS 17,138,856 17,138,961
18 CDS 17,147,413 17,147,481
Other genome
Genome Chromosome Start End Links
hg19 chrX 16,964,985 17,171,395 Link
CDS sequence
ATGGAGGCGGCAGCGGCGGCGGCGGCGGCGGCAGCGGCAGCGGCAGCGGCGGGCGGGGGCTGTGGCTCCGGGCCGCCGCCGCTGCTGCTGAGCGAGGGCGAGCAGCAGTGCTACTCCGAGCTCTTCGCGCGCTGTGCCGGCGCCGCGGGCGGGGGCCCCGGGTCTGGGCCCCCCGAGGCCGCCAGAGTCGCCCCCGGCACGGCCACTGCGGCCGCCGGCCCCGTGGCTGACCTGTTTCGGGCATCGCAGCTGCCCGCCGAGACGCTGCACCAGATCACAGAACTGTGTGGTGCAAAGCGGGTTGGTTATTTTGGTCCAACACAGTTTTACATTGCCCTGAAATTAATTGCTGCAGCACAATCTGGCCTCCCGGTACGGATAGAGAGTATTAAATGTGAATTGCCTCTGCCTCGCTTTATGATGTCAAAGAATGATGGTGAGATACGATTTGGGAACCCAGCTGAGCTGCATGGAACTAAGGTTCAGATTCCATATTTAACTACAGAAAAAAATTCCTTCAAAAGAATGGACGATGAGGATAAACAGGAAACACAGTCTCCCACGATGTCACCCCTCGCCTCCCCTCCTTCTTCCCCGCCTCATTACCAGAGGGTGCCCTTGAGCCATGGCTACAGCAAACTGCGGAGCAGCGCAGAACAGATGCATCCAGCACCTTATGAAGCTAGGCAGCCCCTTGTCCAGCCCGAGGGATCCTCATCAGGGGGCCCAGGAACCAAGCCCCTTCGGCATCAGGCTTCCCTTATCCGGTCCTTTTCAGTGGAGAGGGAACTACAGGATAACAGCAGTTACCCCGACGAACCCTGGAGGATAACAGAAGAACAGCGCGAGTACTATGTCAATCAGTTCCGATCCCTTCAGCCAGACCCAAGCTCTTTCATTTCAGGTTCTGTGGCCAAGAACTTCTTCACCAAATCAAAGCTTTCCATTCCAGAACTCTCCTATATATGGGAGCTTAGTGATGCTGACTGTGATGGAGCCCTGACCCTGCCTGAGTTCTGTGCTGCGTTTCATCTCATTGTGGCTCGGAAGAACGGCTACCCATTGCCTGAGGGCCTCCCTCCAACTCTGCAGCCAGAATACCTGCAGGCAGCTTTTCCTAAGCCCAAATGGGACTGTCAATTATTTGATTCTTATTCTGAGTCACTGCCGGCAAATCAACAACCTCGTGACTTGAATCGGATGGAGAAGACATCTGTTAAAGACATGGCTGACCTTCCTGTCCCTAACCAGGATGTAACTAGTGATGACAAACAAGCTTTGAAAAGTACTATCAATGAAGCCTTACCAAAGGACGTGTCTGAGGATCCAGCAACTCCCAAGGATTCCAACAGTCTCAAAGCAAGACCAAGATCCAGATCTTACTCTAGCACCTCCATAGAAGAGGCCATGAAAAGGGGCGAGGACCCTCCCACCCCGCCACCTCGGCCACAGAAAACCCATTCCAGAGCCTCCTCCTTGGATCTGAATAAAGTCTTCCAGCCCAGTGTGCCAGCTACCAAGTCAGGATTGTTACCCCCACCACCTGCGCTCCCTCCAAGACCTTGTCCATCACAGTCTGAACAAGTGTCGGAGGCCGAGTTACTCCCACAGCTGAGCAGAGCCCCATCCCAGGCTGCAGAAAGTAGTCCAGCAAAGAAGGATGTACTGTATTCTCAGCCACCATCAAAGCCCATTCGTAGGAAATTCAGACCAGAAAACCAAGCTACAGAAAACCAAGAGCCTTCCACTGCTGCAAGTGGGCCAGCTTCTGCGGCAACCATGAAACCGCATCCAACAGTCCAAAAGCAGTCTTCCAAACAGAAGAAGGCCATTCAAACTGCTATCCGCAAAAATAAAGAGGCAAACGCAGTGCTGGCTCGGCTGAACAGTGAGCTCCAGCAGCAGCTCAAGGAGGTTCATCAAGAACGAATTGCATTGGAAAACCAATTGGAACAACTTCGTCCGGTCACTGTGTTGTGA
Amino sequence
MEAAAAAAAAAAAAAAAGGGCGSGPPPLLLSEGEQQCYSELFARCAGAAGGGPGSGPPEAARVAPGTATAAAGPVADLFRASQLPAETLHQITELCGAKRVGYFGPTQFYIALKLIAAAQSGLPVRIESIKCELPLPRFMMSKNDGEIRFGNPAELHGTKVQIPYLTTEKNSFKRMDDEDKQETQSPTMSPLASPPSSPPHYQRVPLSHGYSKLRSSAEQMHPAPYEARQPLVQPEGSSSGGPGTKPLRHQASLIRSFSVERELQDNSSYPDEPWRITEEQREYYVNQFRSLQPDPSSFISGSVAKNFFTKSKLSIPELSYIWELSDADCDGALTLPEFCAAFHLIVARKNGYPLPEGLPPTLQPEYLQAAFPKPKWDCQLFDSYSESLPANQQPRDLNRMEKTSVKDMADLPVPNQDVTSDDKQALKSTINEALPKDVSEDPATPKDSNSLKARPRSRSYSSTSIEEAMKRGEDPPTPPPRPQKTHSRASSLDLNKVFQPSVPATKSGLLPPPPALPPRPCPSQSEQVSEAELLPQLSRAPSQAAESSPAKKDVLYSQPPSKPIRRKFRPENQATENQEPSTAASGPASAATMKPHPTVQKQSSKQKKAIQTAIRKNKEANAVLARLNSELQQQLKEVHQERIALENQLEQLRPVTVL*