UBE2V1 ubiquitin conjugating enzyme E2 V1

Information
Symbol
UBE2V1
Type
protein-coding
Description
ubiquitin conjugating enzyme E2 V1
Entrez Gene ID
7335
Genome
hg19
Position
chr20:48,697,661-48,732,491
Genome
hg38
Position
chr20:50,081,124-50,115,954
MIM
602995 OMIM
HGNC
HGNC:12494 HGNC
Ensembl
ENSG00000244687 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
not provided 1 0
Ranking
ClinVar
0
0
0
2
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 :
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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 CIR1
SYNONYM CROC-1
SYNONYM CROC1
SYNONYM UBE2V
SYNONYM UEV-1
SYNONYM UEV1
SYNONYM UEV1A
MIM 602995 OMIM
HGNC HGNC:12494 HGNC
Ensembl ENSG00000244687 Ensembl
AllianceGenome HGNC:12494
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000371674.8 hg38 chr20 50,081,124 50,113,150 32,027
ENST00000371677.7 hg38 chr20 50,081,124 50,115,954 34,831
ENST00000557021.5 hg38 chr20 50,081,124 50,113,198 32,075
ENST00000625172.3 hg38 chr20 50,081,124 50,113,198 32,075
ENST00000415862.6 hg38 chr20 50,081,124 50,115,954 34,831
ENST00000617119.4 hg38 chr20 50,081,124 50,113,198 32,075
ENST00000371657.9 hg38 chr20 50,081,124 50,113,139 32,016
ENST00000340309.7 hg38 chr20 50,081,124 50,115,954 34,831
ENST00000371657.9 hg19 chr20 48,697,661 48,729,676 32,016
ENST00000371674.8 hg19 chr20 48,697,661 48,729,687 32,027
ENST00000340309.7 hg19 chr20 48,697,661 48,732,491 34,831
ENST00000371677.7 hg19 chr20 48,697,661 48,732,491 34,831
ENST00000415862.6 hg19 chr20 48,697,661 48,732,491 34,831
ENST00000625172.3 hg19 chr20 48,697,661 48,729,735 32,075
ENST00000617119.4 hg19 chr20 48,697,661 48,729,735 32,075
ENST00000557021.5 hg19 chr20 48,697,661 48,729,735 32,075
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