SPINT2 serine peptidase inhibitor, Kunitz type 2
Information
- Symbol
- SPINT2
- Type
- protein-coding
- Description
- serine peptidase inhibitor, Kunitz type 2
- Entrez Gene ID
- 10653
- Genome
- hg19
- Position
- chr19:38,755,213-38,783,255
- Genome
- hg38
- Position
- chr19:38,264,573-38,292,615
- MIM
- 605124 OMIM
- HGNC
- HGNC:11247 HGNC
- Ensembl
- ENSG00000167642 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 18 |
| Likely pathogenic | 0 | 14 |
| Benign | 0 | 26 |
| Likely benign | 0 | 158 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 96 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
26 |
 |
272 |
 |
14 |
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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | DIAR3 |
| SYNONYM | HAI-2 |
| SYNONYM | HAI2 |
| SYNONYM | Kop |
| SYNONYM | PB |
| MIM | 605124 OMIM |
| HGNC | HGNC:11247 HGNC |
| Ensembl | ENSG00000167642 Ensembl |
| AllianceGenome | HGNC:11247 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000454580.7 | hg38 | chr19 | 38,264,576 | 38,292,468 | 27,893 |
| ENST00000587090.5 | hg38 | chr19 | 38,264,576 | 38,292,451 | 27,876 |
| ENST00000301244.12 | hg38 | chr19 | 38,264,573 | 38,292,615 | 28,043 |
| ENST00000301244.12 | hg19 | chr19 | 38,755,213 | 38,783,255 | 28,043 |
| ENST00000587090.5 | hg19 | chr19 | 38,755,216 | 38,783,091 | 27,876 |
| ENST00000454580.7 | hg19 | chr19 | 38,755,216 | 38,783,108 | 27,893 |
Genome browser