KRTAP12-2 keratin associated protein 12-2

Information
Symbol
KRTAP12-2
Type
protein-coding
Description
keratin associated protein 12-2
Entrez Gene ID
353323
Genome
hg19
Position
chr21:46,086,106-46,086,844
Genome
hg38
Position
chr21:44,666,189-44,666,927
HGNC
HGNC:20530 HGNC
Ensembl
ENSG00000221864 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
not provided 1 0
Uncertain significance 0 24
Ranking
ClinVar
0
0
0
28
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
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
TypeID
SYNONYM KAP12.2
SYNONYM KRTAP12.2
HGNC HGNC:20530 HGNC
Ensembl ENSG00000221864 Ensembl
AllianceGenome HGNC:20530
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000360770.3 hg38 chr21 44,666,189 44,666,927 739
ENST00000360770.3 hg19 chr21 46,086,106 46,086,844 739
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