MAN2B1 gene homepage

General information
Gene symbol MAN2B1
Gene name mannosidase, alpha, class 2B, member 1
Chromosome 19
Chromosomal band cen-q13.1
Imprinted Unknown
Genomic reference NG_008318.1
Transcript reference NM_000528.3
Associated with diseases ID, MANSA
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 124
Unique public DNA variants reported 98
Individuals with public variants 126
Hidden variants 10
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated March 23, 2020
Version MAN2B1:200323

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/MAN2B1
HGNC 6826
Entrez Gene 4125
PubMed articles MAN2B1
OMIM - Gene 609458
OMIM - Diseases MANSA (mannosidosis, alpha B, lysosomal)
HGMD MAN2B1
GeneCards MAN2B1
GeneTests MAN2B1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00011720 19 transcript variant 1 NM_000528.3 NP_000519.2 124


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