B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)

Information
Symbol
B4GALNT2
Type
protein-coding
Description
beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)
Entrez Gene ID
124872
Genome
hg19
Position
chr17:47,210,329-47,247,236
Genome
hg38
Position
chr17:49,132,967-49,169,874
MIM
111730 OMIM
HGNC
HGNC:24136 HGNC
Ensembl
ENSG00000167080 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 10
Affects 0 2
not provided 2 0
Uncertain significance 0 56
Ranking
ClinVar
0
0
0
74
2
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 B4GALT
SYNONYM GALGT2
MIM 111730 OMIM
HGNC HGNC:24136 HGNC
Ensembl ENSG00000167080 Ensembl
AllianceGenome HGNC:24136
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000300404.2 hg38 chr17 49,132,967 49,169,874 36,908
ENST00000504681.5 hg38 chr17 49,132,460 49,169,989 37,530
ENST00000393354.7 hg38 chr17 49,132,769 49,176,840 44,072
ENST00000504681.5 hg19 chr17 47,209,822 47,247,351 37,530
ENST00000393354.7 hg19 chr17 47,210,131 47,254,202 44,072
ENST00000300404.2 hg19 chr17 47,210,329 47,247,236 36,908
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