PGAP2 post-GPI attachment to proteins 2

Information
Symbol
PGAP2
Type
protein-coding
Description
post-GPI attachment to proteins 2
Entrez Gene ID
27315
Genome
hg19
Position
chr11:3,829,790-3,847,601
Genome
hg38
Position
chr11:3,808,560-3,826,371
MIM
615187 OMIM
HGNC
HGNC:17893 HGNC
Ensembl
ENSG00000148985 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 12
Benign 0 42
Likely benign 0 46
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 78
Ranking
ClinVar
0
0
22
162
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
[No Data.]
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 CWH43-N
SYNONYM FRAG1
SYNONYM HPMRS3
SYNONYM MRT17
SYNONYM MRT21
MIM 615187 OMIM
HGNC HGNC:17893 HGNC
Ensembl ENSG00000148985 Ensembl
AllianceGenome HGNC:17893
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000464261.5 hg38 chr11 3,797,925 3,825,354 27,430
ENST00000464906.6 hg38 chr11 3,797,926 3,825,680 27,755
ENST00000496834.6 hg38 chr11 3,808,594 3,826,330 17,737
ENST00000300730.10 hg38 chr11 3,797,819 3,826,352 28,534
ENST00000465307.6 hg38 chr11 3,808,010 3,825,645 17,636
ENST00000532523.5 hg38 chr11 3,797,913 3,826,334 28,422
ENST00000464229.5 hg38 chr11 3,797,924 3,825,652 27,729
ENST00000396993.8 hg38 chr11 3,797,902 3,826,321 28,420
ENST00000459679.5 hg38 chr11 3,797,923 3,824,554 26,632
ENST00000278243.9 hg38 chr11 3,808,560 3,826,371 17,812
ENST00000396991.6 hg38 chr11 3,808,290 3,826,370 18,081
ENST00000463452.6 hg38 chr11 3,808,579 3,825,541 16,963
ENST00000490830.5 hg38 chr11 3,797,925 3,825,509 27,585
ENST00000464441.5 hg38 chr11 3,797,972 3,825,777 27,806
ENST00000396986.6 hg38 chr11 3,797,819 3,826,334 28,516
ENST00000479072.5 hg38 chr11 3,808,594 3,825,578 16,985
ENST00000493547.6 hg38 chr11 3,808,042 3,826,314 18,273
ENST00000396986.6 hg19 chr11 3,819,049 3,847,564 28,516
ENST00000300730.10 hg19 chr11 3,819,049 3,847,582 28,534
ENST00000464261.5 hg19 chr11 3,819,155 3,846,584 27,430
ENST00000396991.6 hg19 chr11 3,829,520 3,847,600 18,081
ENST00000396993.8 hg19 chr11 3,819,132 3,847,551 28,420
ENST00000278243.9 hg19 chr11 3,829,790 3,847,601 17,812
ENST00000459679.5 hg19 chr11 3,819,153 3,845,784 26,632
ENST00000464229.5 hg19 chr11 3,819,154 3,846,882 27,729
ENST00000463452.6 hg19 chr11 3,829,809 3,846,771 16,963
ENST00000464906.6 hg19 chr11 3,819,156 3,846,910 27,755
ENST00000464441.5 hg19 chr11 3,819,202 3,847,007 27,806
ENST00000465307.6 hg19 chr11 3,829,240 3,846,875 17,636
ENST00000479072.5 hg19 chr11 3,829,824 3,846,808 16,985
ENST00000496834.6 hg19 chr11 3,829,824 3,847,560 17,737
ENST00000490830.5 hg19 chr11 3,819,155 3,846,739 27,585
ENST00000493547.6 hg19 chr11 3,829,272 3,847,544 18,273
ENST00000532523.5 hg19 chr11 3,819,143 3,847,564 28,422
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