HNRNPH2 heterogeneous nuclear ribonucleoprotein H2

Information
Symbol
HNRNPH2
Type
protein-coding
Description
heterogeneous nuclear ribonucleoprotein H2
Entrez Gene ID
3188
Genome
hg19
Position
chrX:100,663,210-100,669,121
Genome
hg38
Position
chrX:101,408,222-101,414,133
MIM
300610 OMIM
HGNC
HGNC:5042 HGNC
Ensembl
ENSG00000126945 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 12
Benign 0 4
Likely benign 0 22
Conflicting classifications of pathogenicity 0 2
not provided 6 0
Uncertain significance 0 26
Ranking
ClinVar
0
0
10
56
4
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 FTP3
SYNONYM HNRPH'
SYNONYM HNRPH2
SYNONYM MRXSB
SYNONYM NRPH2
SYNONYM hnRNPH'
MIM 300610 OMIM
HGNC HGNC:5042 HGNC
Ensembl ENSG00000126945 Ensembl
AllianceGenome HGNC:5042
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000316594.6 hg38 chrX 101,408,222 101,414,133 5,912
ENST00000316594.6 hg19 chrX 100,663,210 100,669,121 5,912
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