GYS2 glycogen synthase 2

Information
Symbol
GYS2
Type
protein-coding
Description
glycogen synthase 2
Entrez Gene ID
2998
Genome
hg19
Position
chr12:21,689,041-21,757,781
Genome
hg38
Position
chr12:21,536,107-21,604,847
MIM
138571 OMIM
HGNC
HGNC:4707 HGNC
Ensembl
ENSG00000111713 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 34
Likely pathogenic 0 38
Benign 0 124
Likely benign 0 152
Conflicting classifications of pathogenicity 0 30
Uncertain significance 0 216
Ranking
ClinVar
0
0
122
402
6
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
MIM 138571 OMIM
HGNC HGNC:4707 HGNC
Ensembl ENSG00000111713 Ensembl
AllianceGenome HGNC:4707
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000261195.3 hg38 chr12 21,536,107 21,604,847 68,741
ENST00000261195.3 hg19 chr12 21,689,041 21,757,781 68,741
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