LAMP2 lysosomal associated membrane protein 2

Information
Symbol
LAMP2
Type
protein-coding
Description
lysosomal associated membrane protein 2
Entrez Gene ID
3920
Genome
hg19
Position
chrX:119,561,682-119,603,220
Genome
hg38
Position
chrX:120,427,827-120,469,365
MIM
309060 OMIM
HGNC
HGNC:6501 HGNC
Ensembl
ENSG00000005893 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 11 186
Likely pathogenic 0 56
Benign 0 150
Likely benign 0 408
Conflicting classifications of pathogenicity 0 118
not provided 6 0
Uncertain significance 0 502
Ranking
ClinVar
0
0
300
860
42
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 CD107b
SYNONYM DND
SYNONYM LAMP-2
SYNONYM LAMPB
SYNONYM LGP-96
SYNONYM LGP110
MIM 309060 OMIM
HGNC HGNC:6501 HGNC
Ensembl ENSG00000005893 Ensembl
AllianceGenome HGNC:6501
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000200639.9 hg38 chrX 120,426,148 120,469,296 43,149
ENST00000706600.1 hg38 chrX 120,431,015 120,469,297 38,283
ENST00000371335.4 hg38 chrX 120,436,494 120,469,306 32,813
ENST00000434600.6 hg38 chrX 120,427,827 120,469,365 41,539
ENST00000200639.9 hg19 chrX 119,560,003 119,603,151 43,149
ENST00000434600.6 hg19 chrX 119,561,682 119,603,220 41,539
ENST00000706600.1 hg19 chrX 119,564,870 119,603,152 38,283
ENST00000371335.4 hg19 chrX 119,570,349 119,603,161 32,813
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