SH2D2A SH2 domain containing 2A

Information
Symbol
SH2D2A
Type
protein-coding
Description
SH2 domain containing 2A
Entrez Gene ID
9047
Genome
hg19
Position
chr1:156,776,036-156,786,640
Genome
hg38
Position
chr1:156,806,244-156,816,848
MIM
604514 OMIM
HGNC
HGNC:10821 HGNC
Ensembl
ENSG00000027869 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 14
not provided 14 0
Uncertain significance 0 38
Ranking
ClinVar
0
0
6
58
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 F2771
SYNONYM SCAP
SYNONYM TSAD
SYNONYM VRAP
MIM 604514 OMIM
HGNC HGNC:10821 HGNC
Ensembl ENSG00000027869 Ensembl
AllianceGenome HGNC:10821
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000368198.7 hg38 chr1 156,806,243 156,816,834 10,592
ENST00000368199.8 hg38 chr1 156,806,243 156,816,848 10,606
ENST00000392306.2 hg38 chr1 156,806,244 156,816,848 10,605
ENST00000368198.7 hg19 chr1 156,776,035 156,786,626 10,592
ENST00000368199.8 hg19 chr1 156,776,035 156,786,640 10,606
ENST00000392306.2 hg19 chr1 156,776,036 156,786,640 10,605
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