DNAH2 dynein axonemal heavy chain 2

Information
Symbol
DNAH2
Type
protein-coding
Description
dynein axonemal heavy chain 2
Entrez Gene ID
146754
Genome
hg19
Position
chr17:7,621,062-7,737,060
Genome
hg38
Position
chr17:7,717,744-7,833,742
MIM
603333 OMIM
HGNC
HGNC:2948 HGNC
Ensembl
ENSG00000183914 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 2
Benign 0 128
Likely benign 0 164
Conflicting classifications of pathogenicity 0 2
not provided 1 0
Uncertain significance 0 516
Ranking
ClinVar
0
0
98
680
24
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 DNAHC2
SYNONYM DNHD3
SYNONYM SPGF45
MIM 603333 OMIM
HGNC HGNC:2948 HGNC
Ensembl ENSG00000183914 Ensembl
AllianceGenome HGNC:2948
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000570791.5 hg38 chr17 7,717,761 7,743,901 26,141
ENST00000389173.6 hg38 chr17 7,719,721 7,833,740 114,020
ENST00000572933.6 hg38 chr17 7,717,744 7,833,742 115,999
ENST00000572933.6 hg19 chr17 7,621,062 7,737,060 115,999
ENST00000570791.5 hg19 chr17 7,621,079 7,647,219 26,141
ENST00000389173.6 hg19 chr17 7,623,039 7,737,058 114,020
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