GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group)

Information
Symbol
GCNT2
Type
protein-coding
Description
glucosaminyl (N-acetyl) transferase 2 (I blood group)
Entrez Gene ID
2651
Genome
hg19
Position
chr6:10,528,589-10,629,600
Genome
hg38
Position
chr6:10,528,356-10,629,367
MIM
600429 OMIM
HGNC
HGNC:4204 HGNC
Ensembl
ENSG00000111846 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 4
Benign 0 88
Likely benign 0 56
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 172
Ranking
ClinVar
0
0
28
292
10
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 CCAT
SYNONYM CTRCT13
SYNONYM GCNT2C
SYNONYM GCNT5
SYNONYM IGNT
SYNONYM II
SYNONYM NACGT1
SYNONYM NAGCT1
SYNONYM ULG3
SYNONYM bA360O19.2
SYNONYM bA421M1.1
MIM 600429 OMIM
HGNC HGNC:4204 HGNC
Ensembl ENSG00000111846 Ensembl
AllianceGenome HGNC:4204
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000316170.9 hg38 chr6 10,555,809 10,629,368 73,560
ENST00000265012.5 hg38 chr6 10,585,760 10,629,368 43,609
ENST00000495262.7 hg38 chr6 10,521,351 10,629,368 108,018
ENST00000379597.7 hg38 chr6 10,528,356 10,629,367 101,012
ENST00000410107.5 hg38 chr6 10,492,223 10,627,222 135,000
ENST00000410107.5 hg19 chr6 10,492,456 10,627,455 135,000
ENST00000495262.7 hg19 chr6 10,521,584 10,629,601 108,018
ENST00000379597.7 hg19 chr6 10,528,589 10,629,600 101,012
ENST00000316170.9 hg19 chr6 10,556,042 10,629,601 73,560
ENST00000265012.5 hg19 chr6 10,585,993 10,629,601 43,609
Genome browser