ENST00000391944.8 ERCC2

Information
Transcript ID
ENST00000391944.8
Genome
hg19
Position
chr19:45,854,852-45,873,846
Strand
-
CDS length
2,490
Amino acid length
830
Gene symbol
ERCC2
Gene type
protein-coding
Gene description
ERCC excision repair 2, TFIIH core complex helicase subunit
Gene Entrez Gene ID
2068
Variants

Display target variant


Search Word
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 :
Search word :
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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
22 45,854,852 45,855,610
21 45,855,764 45,855,907
20 45,856,004 45,856,074
19 45,856,341 45,856,413
18 45,856,500 45,856,592
17 45,857,988 45,858,109
16 45,858,923 45,858,986
15 45,860,528 45,860,629
14 45,860,732 45,860,801
13 45,860,888 45,860,957
12 45,864,782 45,864,900
11 45,867,001 45,867,169
10 45,867,244 45,867,377
9 45,867,493 45,867,589
8 45,867,682 45,867,805
7 45,868,096 45,868,212
6 45,868,300 45,868,416
5 45,871,888 45,872,001
4 45,872,188 45,872,250
3 45,872,328 45,872,405
2 45,873,391 45,873,490
1 45,873,794 45,873,846
CDS
Exon number Type Start Stop
22 CDS 45,855,167 45,855,610
21 CDS 45,855,764 45,855,907
20 CDS 45,856,004 45,856,074
19 CDS 45,856,341 45,856,413
18 CDS 45,856,500 45,856,592
17 CDS 45,857,988 45,858,109
16 CDS 45,858,923 45,858,986
15 CDS 45,860,528 45,860,629
14 CDS 45,860,732 45,860,801
13 CDS 45,860,888 45,860,957
12 CDS 45,864,782 45,864,900
11 CDS 45,867,001 45,867,169
10 CDS 45,867,244 45,867,377
9 CDS 45,867,493 45,867,589
8 CDS 45,867,682 45,867,805
7 CDS 45,868,096 45,868,212
6 CDS 45,868,300 45,868,416
5 CDS 45,871,888 45,872,001
4 CDS 45,872,188 45,872,250
3 CDS 45,872,328 45,872,405
2 CDS 45,873,391 45,873,490
1 CDS 45,873,794 45,873,798
Other genome
Genome Chromosome Start End Links
hg38 chr19 45,351,594 45,370,588 Link
CDS sequence
ATGAAGCTCAACGTGGACGGGCTCCTGGTCTACTTCCCGTACGACTACATCTACCCCGAGCAGTTCTCCTACATGCGGGAGCTCAAACGCACGCTGGACGCCAAGGGTCATGGAGTCCTGGAGATGCCCTCAGGCACCGGGAAGACAGTATCCCTGTTGGCCCTGATCATGGCATACCAGAGAGCATATCCGCTGGAGGTGACCAAACTCATCTACTGCTCAAGAACTGTGCCAGAGATTGAGAAGGTGATTGAAGAGCTTCGAAAGTTGCTCAACTTCTATGAGAAGCAGGAGGGCGAGAAGCTGCCGTTTCTGGGACTGGCTCTGAGCTCCCGCAAAAACTTGTGTATTCACCCTGAGGTGACACCCCTGCGCTTTGGGAAGGACGTCGATGGGAAATGCCACAGCCTCACAGCCTCCTATGTGCGGGCGCAGTACCAGCATGACACCAGCCTGCCCCACTGCCGATTCTATGAGGAATTTGATGCCCATGGGCGTGAGGTGCCCCTCCCCGCTGGCATCTACAACCTGGATGACCTGAAGGCCCTGGGGCGGCGCCAGGGCTGGTGCCCATACTTCCTTGCTCGATACTCAATCCTGCATGCCAATGTGGTGGTTTATAGCTACCACTACCTCCTGGACCCCAAGATTGCAGACCTGGTGTCCAAGGAACTGGCCCGCAAGGCCGTCGTGGTCTTCGACGAGGCCCACAACATTGACAACGTCTGCATCGACTCCATGAGCGTCAACCTCACCCGCCGGACCCTTGACCGGTGCCAGGGCAACCTGGAGACCCTGCAGAAGACGGTGCTCAGGATCAAAGAGACAGACGAGCAGCGCCTGCGGGACGAGTACCGGCGTCTGGTGGAGGGGCTGCGGGAGGCCAGCGCCGCCCGGGAGACGGACGCCCACCTGGCCAACCCCGTGCTGCCCGACGAAGTGCTGCAGGAGGCAGTGCCTGGCTCCATCCGCACGGCCGAGCATTTCCTGGGCTTCCTGAGGCGGCTGCTGGAGTACGTGAAGTGGCGGCTGCGTGTGCAGCATGTGGTGCAGGAGAGCCCGCCCGCCTTCCTGAGCGGCCTGGCCCAGCGCGTGTGCATCCAGCGCAAGCCCCTCAGATTCTGTGCTGAACGCCTCCGGTCCCTGCTGCATACTCTGGAGATCACCGACCTTGCTGACTTCTCCCCGCTCACCCTCCTTGCTAACTTTGCCACCCTTGTCAGCACCTACGCCAAAGGCTTCACCATCATCATCGAGCCCTTTGACGACAGAACCCCGACCATTGCCAACCCCATCCTGCACTTCAGCTGCATGGACGCCTCGCTGGCCATCAAACCCGTATTTGAGCGTTTCCAGTCTGTCATCATCACATCTGGGACACTGTCCCCGCTGGACATCTACCCCAAGATCCTGGACTTCCACCCCGTCACCATGGCAACCTTCACCATGACGCTGGCACGGGTCTGCCTCTGCCCTATGATCATCGGCCGTGGCAATGACCAGGTGGCCATCAGCTCCAAATTTGAGACCCGGGAGGATATTGCTGTGATCCGGAACTATGGGAACCTCCTGCTGGAGATGTCCGCTGTGGTCCCTGATGGCATCGTGGCCTTCTTCACCAGCTACCAGTACATGGAGAGCACCGTGGCCTCCTGGTATGAGCAGGGGATCCTTGAGAACATCCAGAGGAACAAGCTGCTCTTTATTGAGACCCAGGATGGTGCCGAAACCAGTGTCGCCCTGGAGAAGTACCAGGAGGCCTGCGAGAATGGCCGCGGGGCCATCCTGCTGTCAGTGGCCCGGGGCAAAGTGTCCGAGGGAATCGACTTTGTGCACCACTACGGGCGGGCCGTCATCATGTTTGGCGTCCCCTACGTCTACACACAGAGCCGCATTCTCAAGGCGCGGCTGGAATACCTGCGGGACCAGTTCCAGATTCGTGAGAATGACTTTCTTACCTTCGATGCCATGCGCCACGCGGCCCAGTGTGTGGGTCGGGCCATCAGGGGCAAGACGGACTACGGCCTCATGGTCTTTGCCGACAAGCGGTTTGCCCGTGGGGACAAGCGGGGGAAGCTGCCCCGCTGGATCCAGGAGCACCTCACAGATGCCAACCTCAACCTGACCGTGGACGAGGGTGTCCAGGTGGCCAAGTACTTCCTGCGGCAGATGGCACAGCCCTTCCACCGGGTGAGGCCTGCGTCCCCCTCCCGGCACCCTCCCAGGCTGAGCTTCTCCTCCAGAAAGTCCCCTTGGATTCTCCCCACTCCCCACCCTCAGCCTGCCTGTCCTCCTGCCCTCAGCAAAGAGAAGTTTATCGTGCATCTACGTGCCAGGCTCTGGGGGGAAGGGGGAGATTCGAGGGGCCACAGATGCCAGCAGGTGGCCCAGGCACGGCAGGGTGAGAGAAGTTGGGGTGAGGAGGCATTGGGCGTTTTCAGGAGAGACGGTGCTGGCCTGGAGAAAGCCGGTCCTTCTCCGACTCCCTAG
Amino sequence
MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYFLRQMAQPFHRVRPASPSRHPPRLSFSSRKSPWILPTPHPQPACPPALSKEKFIVHLRARLWGEGGDSRGHRCQQVAQARQGERSWGEEALGVFRRDGAGLEKAGPSPTP*