SPINK2 serine peptidase inhibitor Kazal type 2

Information
Symbol
SPINK2
Type
protein-coding
Description
serine peptidase inhibitor Kazal type 2
Entrez Gene ID
6691
Genome
hg19
Position
chr4:57,676,027-57,687,867
Genome
hg38
Position
chr4:56,809,861-56,821,701
MIM
605753 OMIM
HGNC
HGNC:11245 HGNC
Ensembl
ENSG00000128040 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 8
Likely benign 0 4
Uncertain significance 0 12
Ranking
ClinVar
0
0
0
24
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
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
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
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
TypeID
SYNONYM HUSI-II
SYNONYM SPGF29
MIM 605753 OMIM
HGNC HGNC:11245 HGNC
Ensembl ENSG00000128040 Ensembl
AllianceGenome HGNC:11245
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000248701.8 hg38 chr4 56,809,861 56,821,742 11,882
ENST00000618802.3 hg38 chr4 56,809,862 56,821,742 11,881
ENST00000504762.1 hg38 chr4 56,809,872 56,821,694 11,823
ENST00000707144.1 hg38 chr4 56,809,861 56,821,708 11,848
ENST00000506738.6 hg38 chr4 56,809,861 56,821,701 11,841
ENST00000506738.6 hg19 chr4 57,676,027 57,687,867 11,841
ENST00000707144.1 hg19 chr4 57,676,027 57,687,874 11,848
ENST00000248701.8 hg19 chr4 57,676,027 57,687,908 11,882
ENST00000618802.3 hg19 chr4 57,676,028 57,687,908 11,881
ENST00000504762.1 hg19 chr4 57,676,038 57,687,860 11,823
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