B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
Information
- Symbol
- B3GALNT2
- Type
- protein-coding
- Description
- beta-1,3-N-acetylgalactosaminyltransferase 2
- Entrez Gene ID
- 148789
- Genome
- hg19
- Position
- chr1:235,613,238-235,667,781
- Genome
- hg38
- Position
- chr1:235,447,190-235,504,452
- MIM
- 610194 OMIM
- HGNC
- HGNC:28596 HGNC
- Ensembl
- ENSG00000162885 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 50 |
| Likely pathogenic | 0 | 34 |
| Benign | 0 | 66 |
| Likely benign | 0 | 380 |
| Conflicting classifications of pathogenicity | 0 | 13 |
| not provided | 0 | 2 |
| Uncertain significance | 0 | 435 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
175 |
 |
772 |
 |
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
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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
|
| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | B3GalNAc-T2 |
| SYNONYM | MDDGA11 |
| MIM | 610194 OMIM |
| HGNC | HGNC:28596 HGNC |
| Ensembl | ENSG00000162885 Ensembl |
| AllianceGenome | HGNC:28596 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000366600.8 | hg38 | chr1 | 235,447,190 | 235,504,452 | 57,263 |
| ENST00000676288.1 | hg38 | chr1 | 235,449,091 | 235,504,425 | 55,335 |
| ENST00000675555.1 | hg38 | chr1 | 235,449,155 | 235,498,827 | 49,673 |
| ENST00000313984.3 | hg38 | chr1 | 235,464,896 | 235,504,422 | 39,527 |
| ENST00000366600.3 | hg19 | chr1 | 235,613,238 | 235,667,781 | 54,544 |
| ENST00000313984.3 | hg19 | chr1 | 235,628,213 | 235,667,722 | 39,510 |
| ENST00000494378.1 | hg19 | chr1 | 235,642,224 | 235,667,725 | 25,502 |
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