B3GNT2 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Information
- Symbol
- B3GNT2
- Type
- protein-coding
- Description
- UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
- Entrez Gene ID
- 10678
- Genome
- hg19
- Position
- chr2:62,423,250-62,451,866
- Genome
- hg38
- Position
- chr2:62,196,115-62,224,731
- MIM
- 605581 OMIM
- HGNC
- HGNC:15629 HGNC
- Ensembl
- ENSG00000170340 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 8 |
| Likely benign | 0 | 6 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 22 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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2 |
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34 |
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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
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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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| 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
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| Category | : |
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | 3-Gn-T1 |
| SYNONYM | 3-Gn-T2 |
| SYNONYM | B3GN-T2 |
| SYNONYM | B3GNT |
| SYNONYM | B3GNT-2 |
| SYNONYM | B3GNT1 |
| SYNONYM | BETA3GNT |
| SYNONYM | BGNT2 |
| SYNONYM | BGnT-2 |
| SYNONYM | beta-1 |
| SYNONYM | beta3Gn-T1 |
| SYNONYM | beta3Gn-T2 |
| MIM | 605581 OMIM |
| HGNC | HGNC:15629 HGNC |
| Ensembl | ENSG00000170340 Ensembl |
| AllianceGenome | HGNC:15629 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000405767.1 | hg38 | chr2 | 62,215,518 | 62,224,549 | 9,032 |
| ENST00000301998.5 | hg38 | chr2 | 62,196,115 | 62,224,731 | 28,617 |
| ENST00000301998.5 | hg19 | chr2 | 62,423,250 | 62,451,866 | 28,617 |
| ENST00000405767.1 | hg19 | chr2 | 62,442,653 | 62,451,684 | 9,032 |
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