NFE2 nuclear factor, erythroid 2

Information
Symbol
NFE2
Type
protein-coding
Description
nuclear factor, erythroid 2
Entrez Gene ID
4778
Genome
hg19
Position
chr12:54,685,957-54,689,542
Genome
hg38
Position
chr12:54,292,173-54,295,758
MIM
601490 OMIM
HGNC
HGNC:7780 HGNC
Ensembl
ENSG00000123405 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
not provided 8 0
Uncertain significance 0 24
Ranking
ClinVar
0
0
0
26
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 NF-E2
SYNONYM p45
MIM 601490 OMIM
HGNC HGNC:7780 HGNC
Ensembl ENSG00000123405 Ensembl
AllianceGenome HGNC:7780
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000312156.8 hg38 chr12 54,292,111 54,295,760 3,650
ENST00000435572.7 hg38 chr12 54,292,111 54,301,015 8,905
ENST00000553070.5 hg38 chr12 54,292,374 54,301,015 8,642
ENST00000540264.2 hg38 chr12 54,292,173 54,295,758 3,586
ENST00000312156.8 hg19 chr12 54,685,895 54,689,544 3,650
ENST00000435572.7 hg19 chr12 54,685,895 54,694,799 8,905
ENST00000540264.2 hg19 chr12 54,685,957 54,689,542 3,586
ENST00000553070.5 hg19 chr12 54,686,158 54,694,799 8,642
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