ITM2C integral membrane protein 2C

Information
Symbol
ITM2C
Type
protein-coding
Description
integral membrane protein 2C
Entrez Gene ID
81618
Genome
hg19
Position
chr2:231,729,657-231,743,963
Genome
hg38
Position
chr2:230,864,942-230,879,248
MIM
609554 OMIM
HGNC
HGNC:6175 HGNC
Ensembl
ENSG00000135916 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
40
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
[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 BRI3
SYNONYM BRICD2C
SYNONYM E25
SYNONYM E25C
SYNONYM ITM3
MIM 609554 OMIM
HGNC HGNC:6175 HGNC
Ensembl ENSG00000135916 Ensembl
AllianceGenome HGNC:6175
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000335005.10 hg38 chr2 230,864,948 230,879,247 14,300
ENST00000620962.1 hg38 chr2 230,878,218 230,878,718 501
ENST00000409704.6 hg38 chr2 230,865,268 230,878,385 13,118
ENST00000326407.10 hg38 chr2 230,864,980 230,879,248 14,269
ENST00000326427.11 hg38 chr2 230,864,942 230,879,248 14,307
ENST00000326427.11 hg19 chr2 231,729,657 231,743,963 14,307
ENST00000335005.10 hg19 chr2 231,729,663 231,743,962 14,300
ENST00000326407.10 hg19 chr2 231,729,695 231,743,963 14,269
ENST00000409704.6 hg19 chr2 231,729,983 231,743,100 13,118
ENST00000620962.1 hg19 chr2 231,742,933 231,743,433 501
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