MBL2 mannose binding lectin 2

Information
Symbol
MBL2
Type
protein-coding
Description
mannose binding lectin 2
Entrez Gene ID
4153
Genome
hg19
Position
chr10:54,525,140-54,532,544
Genome
hg38
Position
chr10:52,765,380-52,772,784
MIM
154545 OMIM
HGNC
HGNC:6922 HGNC
Ensembl
ENSG00000165471 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 34
Conflicting classifications of pathogenicity 0 24
not provided 1 0
Uncertain significance 0 148
Ranking
ClinVar
0
0
12
170
0
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 COLEC1
SYNONYM HSMBPC
SYNONYM MBL
SYNONYM MBL2D
SYNONYM MBP
SYNONYM MBP-C
SYNONYM MBP1
SYNONYM MBPD
MIM 154545 OMIM
HGNC HGNC:6922 HGNC
Ensembl ENSG00000165471 Ensembl
AllianceGenome HGNC:6922
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000674931.1 hg38 chr10 52,765,380 52,772,784 7,405
ENST00000373968.3 hg38 chr10 52,765,380 52,771,700 6,321
ENST00000675947.1 hg38 chr10 52,765,380 52,772,784 7,405
ENST00000373968.3 hg19 chr10 54,525,140 54,531,460 6,321
ENST00000675947.1 hg19 chr10 54,525,140 54,532,544 7,405
ENST00000674931.1 hg19 chr10 54,525,140 54,532,544 7,405
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