ACTG2 actin gamma 2, smooth muscle

Information
Symbol
ACTG2
Type
protein-coding
Description
actin gamma 2, smooth muscle
Entrez Gene ID
72
Genome
hg19
Position
chr2:74,120,135-74,146,992
Genome
hg38
Position
chr2:73,893,008-73,919,865
MIM
102545 OMIM
HGNC
HGNC:145 HGNC
Ensembl
ENSG00000163017 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 42
Likely pathogenic 0 38
Benign 0 18
Likely benign 0 8
Conflicting classifications of pathogenicity 0 4
not provided 0 2
Uncertain significance 0 62
Ranking
ClinVar
0
0
30
104
24
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 ACT
SYNONYM ACTA3
SYNONYM ACTE
SYNONYM ACTL3
SYNONYM ACTSG
SYNONYM MMIHS5
SYNONYM VSCM
SYNONYM VSCM1
MIM 102545 OMIM
HGNC HGNC:145 HGNC
Ensembl ENSG00000163017 Ensembl
AllianceGenome HGNC:145
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409731.7 hg38 chr2 73,892,967 73,919,865 26,899
ENST00000409624.1 hg38 chr2 73,893,008 73,919,865 26,858
ENST00000345517.8 hg38 chr2 73,893,008 73,919,865 26,858
ENST00000409918.5 hg38 chr2 73,892,982 73,903,189 10,208
ENST00000409731.7 hg19 chr2 74,120,094 74,146,992 26,899
ENST00000409918.5 hg19 chr2 74,120,109 74,130,316 10,208
ENST00000345517.8 hg19 chr2 74,120,135 74,146,992 26,858
ENST00000409624.1 hg19 chr2 74,120,135 74,146,992 26,858
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