ENST00000330280.11 GTF2H2

Information
Transcript ID
ENST00000330280.11
Genome
hg38
Position
chr5:71,035,076-71,067,650
Strand
-
CDS length
1,188
Amino acid length
396
Gene symbol
GTF2H2
Gene type
protein-coding
Gene description
general transcription factor IIH subunit 2
Gene Entrez Gene ID
2966
Variants

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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
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Target data :
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
17 71,035,076 71,035,796
16 71,037,507 71,037,546
15 71,041,522 71,041,624
14 71,042,181 71,042,284
13 71,045,444 71,045,507
12 71,048,006 71,048,113
11 71,048,762 71,048,849
10 71,049,068 71,049,158
9 71,055,352 71,055,457
8 71,059,690 71,059,744
7 71,060,120 71,060,170
6 71,060,844 71,060,930
5 71,061,272 71,061,308
4 71,061,688 71,061,765
3 71,062,708 71,062,796
2 71,065,125 71,065,222
1 71,067,494 71,067,650
CDS
Exon number Type Start Stop
17 CDS 71,035,677 71,035,796
16 CDS 71,037,507 71,037,546
15 CDS 71,041,522 71,041,624
14 CDS 71,042,181 71,042,284
13 CDS 71,045,444 71,045,507
12 CDS 71,048,006 71,048,113
11 CDS 71,048,762 71,048,849
10 CDS 71,049,068 71,049,158
9 CDS 71,055,352 71,055,457
8 CDS 71,059,690 71,059,744
7 CDS 71,060,120 71,060,170
6 CDS 71,060,844 71,060,930
5 CDS 71,061,272 71,061,308
4 CDS 71,061,688 71,061,765
3 CDS 71,062,708 71,062,763
Other genome
Genome Chromosome Start End Links
hg19 chr5 70,330,903 70,363,477 Link
CDS sequence
ATGGATGAAGAACCTGAAAGAACTAAGCGATGGGAAGGAGGCTATGAAAGAACATGGGAGATTCTTAAAGAAGATGAATCTGGATCACTTAAAGCTACAATAGAAGACATTCTATTCAAGGCAAAGAGAAAAAGAGTATTTGAGCACCATGGACAAGTTCGACTTGGAATGATGCGCCACCTTTATGTGGTAGTAGATGGATCAAGAACAATGGAAGACCAAGATTTAAAGCCTAATAGACTGACGTGTACTTTAAAGTTGTTGGAATACTTTGTAGAGGAATATTTTGATCAAAATCCTATTAGTCAGATTGGAATAATTGTAACTAAGAGTAAAAGAGCTGAAAAATTGACTGAACTTTCAGGAAACCCAAGAAAACATATAACGTCTTTGAAGAAAGCTGTGGATATGACCTGCCATGGAGAGCCATCTCTTTATAATTCCCTAAGCATAGCTATGCAGACTCTAAAACACATGCCTGGACATACAAGTCGAGAAGTACTAATCATCTTTAGCAGCCTTACAACTTGCGATCCATCTAATATTTATGATCTAATCAAGACCCTAAAGGCAGCTAAAATTAGAGTATCTGTTATTGGATTGTCTGCAGAAGTTCGCGTTTGCACTGTACTTGCTCGTGAAACTGGTGGCACGTACCATGTTATTTTAGATGAAAGCCATTACAAAGAGTTGCTCACACATCATGTTAGTCCTCCTCCTGCTAGCTCAAGTTCTGAATGCTCACTTATTCGTATGGGATTTCCTCAGCACACCATTGCTTCTTTATCTGACCAGGATGCAAAACCCTCTTTCAGCATGGCGCATTTGGATGGCAATACTGAGCCAGGGCTTACATTAGGAGGCTATTTCTGCCCACAGTGTCGGGCAAAGTACTGTGAGCTACCTGTTGAGTGTAAAATCTGTGGTCTTACTTTGGTGTCTGCTCCCCACTTGGCACGGTCTTACCATCATTTGTTTCCTTTGGATGCTTTTCAAGAAATTCCCCTAGAAGAATATAATGGAGAAAGATTTTGTTATGGATGTCAGGGGGAATTGAAAGACCAACATGTTTATGTTTGTGCTGTGTGCCAAAATGTTTTCTGTGTGGACTGTGATGTTTTTGTTCATGATTCTCTACACTGTTGCCCTGGCTGTATTCATAAGATTCCAGCTCCTTCAGGTGTTTGA
Amino sequence
MDEEPERTKRWEGGYERTWEILKEDESGSLKATIEDILFKAKRKRVFEHHGQVRLGMMRHLYVVVDGSRTMEDQDLKPNRLTCTLKLLEYFVEEYFDQNPISQIGIIVTKSKRAEKLTELSGNPRKHITSLKKAVDMTCHGEPSLYNSLSIAMQTLKHMPGHTSREVLIIFSSLTTCDPSNIYDLIKTLKAAKIRVSVIGLSAEVRVCTVLARETGGTYHVILDESHYKELLTHHVSPPPASSSSECSLIRMGFPQHTIASLSDQDAKPSFSMAHLDGNTEPGLTLGGYFCPQCRAKYCELPVECKICGLTLVSAPHLARSYHHLFPLDAFQEIPLEEYNGERFCYGCQGELKDQHVYVCAVCQNVFCVDCDVFVHDSLHCCPGCIHKIPAPSGV*