GGTLC2 gamma-glutamyltransferase light chain 2

Information
Symbol
GGTLC2
Type
protein-coding
Description
gamma-glutamyltransferase light chain 2
Entrez Gene ID
91227
Genome
hg19
Position
chr22:22,988,780-22,990,368
Genome
hg38
Position
chr22:22,646,310-22,647,898
MIM
612339 OMIM
HGNC
HGNC:18596 HGNC
Ensembl
ENSG00000100121 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 4
not provided 2 0
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
60
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 GGTL4
MIM 612339 OMIM
HGNC HGNC:18596 HGNC
Ensembl ENSG00000100121 Ensembl
AllianceGenome HGNC:18596
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000417145.2 hg38 chr22 22,646,310 22,647,898 1,589
ENST00000480559.6 hg38 chr22 22,644,640 22,647,898 3,259
ENST00000448514.3 hg38 chr22 22,644,614 22,647,898 3,285
ENST00000448514.3 hg19 chr22 22,987,085 22,990,368 3,284
ENST00000480559.6 hg19 chr22 22,987,111 22,990,368 3,258
ENST00000417145.2 hg19 chr22 22,988,780 22,990,368 1,589
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