CA2 carbonic anhydrase 2

Information
Symbol
CA2
Type
protein-coding
Description
carbonic anhydrase 2
Entrez Gene ID
760
Genome
hg19
Position
chr8:86,376,236-86,393,722
Genome
hg38
Position
chr8:85,464,007-85,481,493
MIM
611492 OMIM
HGNC
HGNC:1373 HGNC
Ensembl
ENSG00000104267 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 14
Benign 0 50
Likely benign 0 104
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 118
Ranking
ClinVar
0
0
60
226
12
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 CA-II
SYNONYM CAC
SYNONYM CAII
SYNONYM Car2
SYNONYM HEL-76
SYNONYM HEL-S-282
MIM 611492 OMIM
HGNC HGNC:1373 HGNC
Ensembl ENSG00000104267 Ensembl
AllianceGenome HGNC:1373
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000285379.10 hg38 chr8 85,464,007 85,481,493 17,487
ENST00000285379.10 hg19 chr8 86,376,236 86,393,722 17,487
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