HAPLN2 hyaluronan and proteoglycan link protein 2
Information
- Symbol
- HAPLN2
- Type
- protein-coding
- Description
- hyaluronan and proteoglycan link protein 2
- Entrez Gene ID
- 60484
- Genome
- hg19
- Position
- chr1:156,589,207-156,595,517
- Genome
- hg38
- Position
- chr1:156,619,415-156,625,725
- MIM
- 619726 OMIM
- HGNC
- HGNC:17410 HGNC
- Ensembl
- ENSG00000132702 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 4 |
Uncertain significance | 0 | 34 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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38 |
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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
[No Data.]
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 |
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Filtering | : |
Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | BRAL1 |
MIM | 619726 OMIM |
HGNC | HGNC:17410 HGNC |
Ensembl | ENSG00000132702 Ensembl |
AllianceGenome | HGNC:17410 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000255039.6 | hg38 | chr1 | 156,619,415 | 156,625,725 | 6,311 |
ENST00000255039.6 | hg19 | chr1 | 156,589,207 | 156,595,517 | 6,311 |
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