GIT2 GIT ArfGAP 2

Information
Symbol
GIT2
Type
protein-coding
Description
GIT ArfGAP 2
Entrez Gene ID
9815
Genome
hg19
Position
chr12:110,367,609-110,434,173
Genome
hg38
Position
chr12:109,929,804-109,996,368
MIM
608564 OMIM
HGNC
HGNC:4273 HGNC
Ensembl
ENSG00000139436 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 4
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
68
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
[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 CAT-2
SYNONYM CAT2
SYNONYM PKL
MIM 608564 OMIM
HGNC HGNC:4273 HGNC
Ensembl ENSG00000139436 Ensembl
AllianceGenome HGNC:4273
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000457474.6 hg38 chr12 109,929,804 109,996,295 66,492
ENST00000320063.10 hg38 chr12 109,948,062 109,996,291 48,230
ENST00000355312.8 hg38 chr12 109,929,804 109,996,368 66,565
ENST00000361006.9 hg38 chr12 109,929,804 109,996,304 66,501
ENST00000547815.5 hg38 chr12 109,947,322 109,996,296 48,975
ENST00000551209.5 hg38 chr12 109,932,978 109,996,224 63,247
ENST00000553118.5 hg38 chr12 109,932,615 109,996,389 63,775
ENST00000361006.9 hg19 chr12 110,367,609 110,434,109 66,501
ENST00000355312.8 hg19 chr12 110,367,609 110,434,173 66,565
ENST00000457474.6 hg19 chr12 110,367,609 110,434,100 66,492
ENST00000320063.10 hg19 chr12 110,385,867 110,434,096 48,230
ENST00000547815.5 hg19 chr12 110,385,127 110,434,101 48,975
ENST00000551209.5 hg19 chr12 110,370,783 110,434,029 63,247
ENST00000553118.5 hg19 chr12 110,370,420 110,434,194 63,775
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