DOC2A double C2 domain alpha

Information
Symbol
DOC2A
Type
protein-coding
Description
double C2 domain alpha
Entrez Gene ID
8448
Genome
hg19
Position
chr16:30,016,835-30,022,348
Genome
hg38
Position
chr16:30,005,514-30,011,027
MIM
604567 OMIM
HGNC
HGNC:2985 HGNC
Ensembl
ENSG00000149927 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 2
not provided 9 0
Uncertain significance 0 50
Ranking
ClinVar
0
0
0
60
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 Doc2
MIM 604567 OMIM
HGNC HGNC:2985 HGNC
Ensembl ENSG00000149927 Ensembl
AllianceGenome HGNC:2985
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000616445.4 hg38 chr16 30,005,516 30,011,421 5,906
ENST00000564979.5 hg38 chr16 30,005,872 30,012,304 6,433
ENST00000350119.9 hg38 chr16 30,005,514 30,011,027 5,514
ENST00000564944.5 hg38 chr16 30,005,799 30,011,421 5,623
ENST00000350119.9 hg19 chr16 30,016,835 30,022,348 5,514
ENST00000564944.5 hg19 chr16 30,017,120 30,022,742 5,623
ENST00000564979.5 hg19 chr16 30,017,193 30,023,625 6,433
ENST00000616445.4 hg19 chr16 30,016,837 30,022,742 5,906
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