GTF2H2 general transcription factor IIH subunit 2

Information
Symbol
GTF2H2
Type
protein-coding
Description
general transcription factor IIH subunit 2
Entrez Gene ID
2966
Genome
hg19
Position
chr5:70,330,903-70,363,477
Genome
hg38
Position
chr5:71,035,076-71,067,650
MIM
601748 OMIM
HGNC
HGNC:4656 HGNC
Ensembl
ENSG00000145736 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 1 0
Uncertain significance 0 20
Ranking
ClinVar
0
0
0
22
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 :
Filtering :
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 :
Search word :
Filtering :
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
TypeID
SYNONYM BTF2
SYNONYM BTF2 p44
SYNONYM BTF2P44
SYNONYM T-BTF2P44
SYNONYM TFIIH
SYNONYM p44
MIM 601748 OMIM
HGNC HGNC:4656 HGNC
Ensembl ENSG00000145736 Ensembl
AllianceGenome HGNC:4656
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000274400.10 hg38 chr5 71,035,347 71,067,676 32,330
ENST00000517900.5 hg38 chr5 71,035,582 71,067,652 32,071
ENST00000330280.11 hg38 chr5 71,035,076 71,067,650 32,575
ENST00000330280.11 hg19 chr5 70,330,903 70,363,477 32,575
ENST00000274400.10 hg19 chr5 70,331,174 70,363,503 32,330
ENST00000517900.5 hg19 chr5 70,331,409 70,363,479 32,071
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