SMN2 survival of motor neuron 2, centromeric

Information
Symbol
SMN2
Type
protein-coding
Description
survival of motor neuron 2, centromeric
Entrez Gene ID
6607
Genome
hg19
Position
chr5:69,345,496-69,373,422
Genome
hg38
Position
chr5:70,049,669-70,077,595
MIM
601627 OMIM
HGNC
HGNC:11118 HGNC
Ensembl
ENSG00000205571 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Conflicting classifications of pathogenicity 0 2
not provided 1 0
Uncertain significance 0 6
Ranking
ClinVar
0
0
0
4
4
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 BCD541
SYNONYM C-BCD541
SYNONYM GEMIN1
SYNONYM SMNC
SYNONYM TDRD16B
MIM 601627 OMIM
HGNC HGNC:11118 HGNC
Ensembl ENSG00000205571 Ensembl
AllianceGenome HGNC:11118
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000614240.4 hg38 chr5 70,049,686 70,076,586 26,901
ENST00000511812.5 hg38 chr5 70,049,638 70,076,706 27,069
ENST00000380741.8 hg38 chr5 70,049,686 70,076,586 26,901
ENST00000380743.9 hg38 chr5 70,049,669 70,077,595 27,927
ENST00000380742.8 hg38 chr5 70,049,664 70,077,592 27,929
ENST00000626847.2 hg38 chr5 70,049,654 70,077,592 27,939
ENST00000628696.2 hg38 chr5 70,049,686 70,071,332 21,647
ENST00000511812.5 hg19 chr5 69,345,465 69,372,533 27,069
ENST00000626847.2 hg19 chr5 69,345,481 69,373,419 27,939
ENST00000380742.8 hg19 chr5 69,345,491 69,373,419 27,929
ENST00000380743.9 hg19 chr5 69,345,496 69,373,422 27,927
ENST00000628696.2 hg19 chr5 69,345,513 69,367,159 21,647
ENST00000380741.8 hg19 chr5 69,345,513 69,372,413 26,901
ENST00000614240.4 hg19 chr5 69,345,513 69,372,413 26,901
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