ENST00000330280.11 GTF2H2

Information
Transcript ID
ENST00000330280.11
Genome
hg19
Position
chr5:70,330,903-70,363,477
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 70,330,903 70,331,623
16 70,333,334 70,333,373
15 70,337,349 70,337,451
14 70,338,008 70,338,111
13 70,341,271 70,341,334
12 70,343,833 70,343,940
11 70,344,589 70,344,676
10 70,344,895 70,344,985
9 70,351,179 70,351,284
8 70,355,517 70,355,571
7 70,355,947 70,355,997
6 70,356,671 70,356,757
5 70,357,099 70,357,135
4 70,357,515 70,357,592
3 70,358,535 70,358,623
2 70,360,952 70,361,049
1 70,363,321 70,363,477
CDS
Exon number Type Start Stop
17 CDS 70,331,504 70,331,623
16 CDS 70,333,334 70,333,373
15 CDS 70,337,349 70,337,451
14 CDS 70,338,008 70,338,111
13 CDS 70,341,271 70,341,334
12 CDS 70,343,833 70,343,940
11 CDS 70,344,589 70,344,676
10 CDS 70,344,895 70,344,985
9 CDS 70,351,179 70,351,284
8 CDS 70,355,517 70,355,571
7 CDS 70,355,947 70,355,997
6 CDS 70,356,671 70,356,757
5 CDS 70,357,099 70,357,135
4 CDS 70,357,515 70,357,592
3 CDS 70,358,535 70,358,590
Other genome
Genome Chromosome Start End Links
hg38 chr5 71,035,076 71,067,650 Link
CDS sequence
ATGGATGAAGAACCTGAAAGAACTAAGCGATGGGAAGGAGGCTATGAAAGAACATGGGAGATTCTTAAAGAAGATGAATCTGGATCACTTAAAGCTACAATAGAAGACATTCTATTCAAGGCAAAGAGAAAAAGAGTATTTGAGCACCATGGACAAGTTCGACTTGGAATGATGCGCCACCTTTATGTGGTAGTAGATGGATCAAGAACAATGGAAGACCAAGATTTAAAGCCTAATAGACTGACGTGTACTTTAAAGTTGTTGGAATACTTTGTAGAGGAATATTTTGATCAAAATCCTATTAGTCAGATTGGAATAATTGTAACTAAGAGTAAAAGAGCTGAAAAATTGACTGAACTTTCAGGAAACCCAAGAAAACATATAACGTCTTTGAAGAAAGCTGTGGATATGACCTGCCATGGAGAGCCATCTCTTTATAATTCCCTAAGCATAGCTATGCAGACTCTAAAACACATGCCTGGACATACAAGTCGAGAAGTACTAATCATCTTTAGCAGCCTTACAACTTGCGATCCATCTAATATTTATGATCTAATCAAGACCCTAAAGGCAGCTAAAATTAGAGTATCTGTTATTGGATTGTCTGCAGAAGTTCGCGTTTGCACTGTACTTGCTCGTGAAACTGGTGGCACGTACCATGTTATTTTAGATGAAAGCCATTACAAAGAGTTGCTCACACATCATGTTAGTCCTCCTCCTGCTAGCTCAAGTTCTGAATGCTCACTTATTCGTATGGGATTTCCTCAGCACACCATTGCTTCTTTATCTGACCAGGATGCAAAACCCTCTTTCAGCATGGCGCATTTGGATGGCAATACTGAGCCAGGGCTTACATTAGGAGGCTATTTCTGCCCACAGTGTCGGGCAAAGTACTGTGAGCTACCTGTTGAGTGTAAAATCTGTGGTCTTACTTTGGTGTCTGCTCCCCACTTGGCACGGTCTTACCATCATTTGTTTCCTTTGGATGCTTTTCAAGAAATTCCCCTAGAAGAATATAATGGAGAAAGATTTTGTTATGGATGTCAGGGGGAATTGAAAGACCAACATGTTTATGTTTGTGCTGTGTGCCAAAATGTTTTCTGTGTGGACTGTGATGTTTTTGTTCATGATTCTCTACACTGTTGCCCTGGCTGTATTCATAAGATTCCAGCTCCTTCAGGTGTTTGA
Amino sequence
MDEEPERTKRWEGGYERTWEILKEDESGSLKATIEDILFKAKRKRVFEHHGQVRLGMMRHLYVVVDGSRTMEDQDLKPNRLTCTLKLLEYFVEEYFDQNPISQIGIIVTKSKRAEKLTELSGNPRKHITSLKKAVDMTCHGEPSLYNSLSIAMQTLKHMPGHTSREVLIIFSSLTTCDPSNIYDLIKTLKAAKIRVSVIGLSAEVRVCTVLARETGGTYHVILDESHYKELLTHHVSPPPASSSSECSLIRMGFPQHTIASLSDQDAKPSFSMAHLDGNTEPGLTLGGYFCPQCRAKYCELPVECKICGLTLVSAPHLARSYHHLFPLDAFQEIPLEEYNGERFCYGCQGELKDQHVYVCAVCQNVFCVDCDVFVHDSLHCCPGCIHKIPAPSGV*