TMX2 thioredoxin related transmembrane protein 2

Information
Symbol
TMX2
Type
protein-coding
Description
thioredoxin related transmembrane protein 2
Entrez Gene ID
51075
Genome
hg19
Position
chr11:57,480,065-57,508,445
Genome
hg38
Position
chr11:57,712,593-57,740,973
MIM
616715 OMIM
HGNC
HGNC:30739 HGNC
Ensembl
ENSG00000213593 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 12
Likely pathogenic 0 4
Benign 0 2
Likely benign 0 16
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 46
Ranking
ClinVar
0
0
6
58
16
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 :
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 CGI-31
SYNONYM NEDMCMS
SYNONYM PDIA12
SYNONYM PIG26
SYNONYM TXNDC14
MIM 616715 OMIM
HGNC HGNC:30739 HGNC
Ensembl ENSG00000213593 Ensembl
AllianceGenome HGNC:30739
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000378312.8 hg38 chr11 57,712,603 57,740,973 28,371
ENST00000713948.1 hg38 chr11 57,712,599 57,740,973 28,375
ENST00000278422.9 hg38 chr11 57,712,593 57,740,973 28,381
ENST00000713950.1 hg38 chr11 57,712,613 57,740,970 28,358
ENST00000713775.1 hg38 chr11 57,712,580 57,740,973 28,394
ENST00000713776.1 hg38 chr11 57,712,593 57,740,973 28,381
ENST00000713775.1 hg19 chr11 57,480,052 57,508,445 28,394
ENST00000278422.9 hg19 chr11 57,480,065 57,508,445 28,381
ENST00000713776.1 hg19 chr11 57,480,065 57,508,445 28,381
ENST00000713948.1 hg19 chr11 57,480,071 57,508,445 28,375
ENST00000378312.8 hg19 chr11 57,480,075 57,508,445 28,371
ENST00000713950.1 hg19 chr11 57,480,085 57,508,442 28,358
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