CELSR2 cadherin EGF LAG seven-pass G-type receptor 2

Information
Symbol
CELSR2
Type
protein-coding
Description
cadherin EGF LAG seven-pass G-type receptor 2
Entrez Gene ID
1952
Genome
hg19
Position
chr1:109,792,161-109,818,373
Genome
hg38
Position
chr1:109,249,539-109,275,751
MIM
604265 OMIM
HGNC
HGNC:3231 HGNC
Ensembl
ENSG00000143126 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 4
Benign 0 138
Likely benign 0 274
association 0 2
Conflicting classifications of pathogenicity 0 6
not provided 1 0
Uncertain significance 0 490
Ranking
ClinVar
0
0
120
768
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 ADGRC2
SYNONYM CDHF10
SYNONYM EGFL2
SYNONYM Flamingo1
SYNONYM MEGF3
MIM 604265 OMIM
HGNC HGNC:3231 HGNC
Ensembl ENSG00000143126 Ensembl
AllianceGenome HGNC:3231
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000271332.4 hg38 chr1 109,249,539 109,275,751 26,213
ENST00000271332.4 hg19 chr1 109,792,161 109,818,373 26,213
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