GYG2 glycogenin 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 1 | 0 |
| Benign | 0 | 102 |
| Likely benign | 0 | 126 |
| Conflicting classifications of pathogenicity | 0 | 22 |
| not provided | 8 | 0 |
| Uncertain significance | 0 | 82 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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40 |
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262 |
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4 |
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
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| 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
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| 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
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | GN-2 |
| SYNONYM | GN2 |
| MIM | 300198 OMIM |
| HGNC | HGNC:4700 HGNC |
| Ensembl | ENSG00000056998 Ensembl |
| AllianceGenome | HGNC:4700 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000398806.8 | hg38 | chrX | 2,828,930 | 2,882,818 | 53,889 |
| ENST00000381163.7 | hg38 | chrX | 2,828,822 | 2,882,818 | 53,997 |
| ENST00000353656.10 | hg38 | chrX | 2,830,189 | 2,881,213 | 51,025 |
| ENST00000381163.7 | hg19 | chrX | 2,746,863 | 2,800,859 | 53,997 |
| ENST00000398806.8 | hg19 | chrX | 2,746,971 | 2,800,859 | 53,889 |
| ENST00000353656.10 | hg19 | chrX | 2,748,230 | 2,799,254 | 51,025 |
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