C2 complement C2

Information
Symbol
C2
Type
protein-coding
Description
complement C2
Entrez Gene ID
717
Genome
hg19
Position
chr6:31,895,494-31,913,449
Genome
hg38
Position
chr6:31,927,717-31,945,672
MIM
613927 OMIM
HGNC
HGNC:1248 HGNC
Ensembl
ENSG00000166278 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 16
Benign 0 28
Likely benign 0 236
Conflicting classifications of pathogenicity 0 48
not provided 28 0
protective 0 2
Uncertain significance 0 362
Ranking
ClinVar
0
0
66
578
8
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 ARMD14
SYNONYM CO2
MIM 613927 OMIM
HGNC HGNC:1248 HGNC
Ensembl ENSG00000166278 Ensembl
AllianceGenome HGNC:1248
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000447952.7 hg38 chr6 31,927,525 31,945,673 18,149
ENST00000452323.7 hg38 chr6 31,900,999 31,945,672 44,674
ENST00000695638.1 hg38 chr6 31,927,741 31,945,672 17,932
ENST00000299367.10 hg38 chr6 31,927,717 31,945,672 17,956
ENST00000695637.1 hg38 chr6 31,897,785 31,945,672 47,888
ENST00000497706.6 hg38 chr6 31,897,787 31,945,672 47,886
ENST00000418949.6 hg38 chr6 31,927,703 31,935,058 7,356
ENST00000695644.1 hg38 chr6 31,927,742 31,945,672 17,931
ENST00000442278.6 hg38 chr6 31,927,496 31,945,671 18,176
ENST00000469372.5 hg38 chr6 31,897,785 31,945,521 47,737
ENST00000469372.5 hg19 chr6 31,865,562 31,913,298 47,737
ENST00000695637.1 hg19 chr6 31,865,562 31,913,449 47,888
ENST00000299367.10 hg19 chr6 31,895,494 31,913,449 17,956
ENST00000418949.6 hg19 chr6 31,895,480 31,902,835 7,356
ENST00000442278.6 hg19 chr6 31,895,273 31,913,448 18,176
ENST00000447952.7 hg19 chr6 31,895,302 31,913,450 18,149
ENST00000452323.7 hg19 chr6 31,868,776 31,913,449 44,674
ENST00000497706.6 hg19 chr6 31,865,564 31,913,449 47,886
ENST00000695638.1 hg19 chr6 31,895,518 31,913,449 17,932
ENST00000695644.1 hg19 chr6 31,895,519 31,913,449 17,931
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