SFTPA2 surfactant protein A2

Information
Symbol
SFTPA2
Type
protein-coding
Description
surfactant protein A2
Entrez Gene ID
729238
Genome
hg19
Position
chr10:81,315,608-81,320,163
Genome
hg38
Position
chr10:79,555,852-79,560,407
MIM
178642 OMIM
HGNC
HGNC:10799 HGNC
Ensembl
ENSG00000185303 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 8
Likely pathogenic 0 2
Benign 2 56
Likely benign 0 42
Conflicting classifications of pathogenicity 0 8
Likely risk allele 0 2
Uncertain significance 0 42
Ranking
ClinVar
0
0
20
114
10
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 COLEC5
SYNONYM ILD2
SYNONYM PSAP
SYNONYM PSP-A
SYNONYM PSPA
SYNONYM SFTP1
SYNONYM SFTPA2B
SYNONYM SP-2A
SYNONYM SP-A
SYNONYM SPA2
SYNONYM SPAII
MIM 178642 OMIM
HGNC HGNC:10799 HGNC
Ensembl ENSG00000185303 Ensembl
AllianceGenome HGNC:10799
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000372325.7 hg38 chr10 79,555,852 79,560,407 4,556
ENST00000372327.9 hg38 chr10 79,557,187 79,560,386 3,200
ENST00000640627.1 hg38 chr10 79,559,414 79,560,402 989
ENST00000372325.7 hg19 chr10 81,315,608 81,320,163 4,556
ENST00000372327.9 hg19 chr10 81,316,943 81,320,142 3,200
ENST00000640627.1 hg19 chr10 81,319,170 81,320,158 989
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