SEPTIN2 septin 2

Information
Symbol
SEPTIN2
Type
protein-coding
Description
septin 2
Entrez Gene ID
4735
Genome
hg19
Position
chr2:242,255,276-242,293,439
Genome
hg38
Position
chr2:241,315,861-241,354,024
MIM
601506 OMIM
HGNC
HGNC:7729 HGNC
Ensembl
ENSG00000168385 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
16
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
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 DIFF6
SYNONYM NEDD-5
SYNONYM NEDD5
SYNONYM Pnutl3
SYNONYM SEPT2
SYNONYM Septin-2
SYNONYM hNedd5
MIM 601506 OMIM
HGNC HGNC:7729 HGNC
Ensembl ENSG00000168385 Ensembl
AllianceGenome HGNC:7729
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000616972.4 hg38 chr2 241,315,861 241,354,024 38,164
ENST00000407971.5 hg38 chr2 241,315,883 241,354,027 38,145
ENST00000401990.5 hg38 chr2 241,315,882 241,352,109 36,228
ENST00000391973.6 hg38 chr2 241,315,100 241,354,024 38,925
ENST00000391971.7 hg38 chr2 241,315,925 241,354,027 38,103
ENST00000402092.6 hg38 chr2 241,315,928 241,354,027 38,100
ENST00000360051.7 hg38 chr2 241,315,289 241,354,024 38,736
ENST00000391973.6 hg19 chr2 242,254,515 242,293,439 38,925
ENST00000360051.7 hg19 chr2 242,254,704 242,293,439 38,736
ENST00000401990.5 hg19 chr2 242,255,297 242,291,524 36,228
ENST00000407971.5 hg19 chr2 242,255,298 242,293,442 38,145
ENST00000391971.7 hg19 chr2 242,255,340 242,293,442 38,103
ENST00000402092.6 hg19 chr2 242,255,343 242,293,442 38,100
ENST00000616972.4 hg19 chr2 242,255,276 242,293,439 38,164
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