HS6ST2 heparan sulfate 6-O-sulfotransferase 2
Information
- Symbol
- HS6ST2
- Type
- protein-coding
- Description
- heparan sulfate 6-O-sulfotransferase 2
- Entrez Gene ID
- 90161
- Genome
- hg19
- Position
- chrX:131,760,043-132,092,657
- Genome
- hg38
- Position
- chrX:132,626,015-132,958,629
- MIM
- 300545 OMIM
- HGNC
- HGNC:19133 HGNC
- Ensembl
- ENSG00000171004 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 2 |
Benign | 0 | 12 |
Likely benign | 0 | 18 |
Conflicting classifications of pathogenicity | 0 | 4 |
not provided | 6 | 0 |
Uncertain significance | 0 | 82 |
Ranking
ClinVar | |
---|---|
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0 |
![]() |
0 |
![]() |
8 |
![]() |
102 |
![]() |
2 |
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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Category | : |
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Search word | : | |
Filtering | : |
Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Search word | : | |
Filtering | : |
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
|
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 | MRXSPM |
MIM | 300545 OMIM |
HGNC | HGNC:19133 HGNC |
Ensembl | ENSG00000171004 Ensembl |
AllianceGenome | HGNC:19133 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000370833.7 | hg38 | chrX | 132,626,015 | 132,958,629 | 332,615 |
ENST00000370836.6 | hg38 | chrX | 132,626,016 | 132,961,395 | 335,380 |
ENST00000406696.5 | hg38 | chrX | 132,626,028 | 132,957,515 | 331,488 |
ENST00000640529.2 | hg38 | chrX | 132,626,028 | 132,957,784 | 331,757 |
ENST00000521489.5 | hg38 | chrX | 132,627,970 | 132,961,395 | 333,426 |
ENST00000370833.7 | hg19 | chrX | 131,760,043 | 132,092,657 | 332,615 |
ENST00000370836.6 | hg19 | chrX | 131,760,044 | 132,095,423 | 335,380 |
ENST00000406696.5 | hg19 | chrX | 131,760,056 | 132,091,543 | 331,488 |
ENST00000640529.2 | hg19 | chrX | 131,760,056 | 132,091,812 | 331,757 |
ENST00000521489.5 | hg19 | chrX | 131,761,998 | 132,095,423 | 333,426 |
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