KRT2 keratin 2

Information
Symbol
KRT2
Type
protein-coding
Description
keratin 2
Entrez Gene ID
3849
Genome
hg19
Position
chr12:53,038,342-53,045,995
Genome
hg38
Position
chr12:52,644,558-52,652,211
MIM
600194 OMIM
HGNC
HGNC:6439 HGNC
Ensembl
ENSG00000172867 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 16
Likely pathogenic 0 2
Benign 16 116
Likely benign 0 52
Conflicting classifications of pathogenicity 0 14
not provided 0 16
Uncertain significance 0 114
Ranking
ClinVar
0
0
52
224
12
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 CK-2e
SYNONYM K2e
SYNONYM KRT2A
SYNONYM KRT2E
SYNONYM KRTE
MIM 600194 OMIM
HGNC HGNC:6439 HGNC
Ensembl ENSG00000172867 Ensembl
AllianceGenome HGNC:6439
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000309680.4 hg38 chr12 52,644,558 52,652,211 7,654
ENST00000309680.4 hg19 chr12 53,038,342 53,045,995 7,654
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