The B2M gene homepage

Mutations in Hereditary Amyloidosis; consortium homepage
General information
Gene symbol B2M
Gene name beta-2-microglobulin
Chromosome 15
Chromosomal band q21-q22.2
Imprinted Unknown
Genomic reference NG_012920.1
Transcript reference NM_004048.2
Exon/intron information NM_004048.2 exon/intron table
Associated with diseases IMD43, amyloidosis, visceral (type VIII)
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Dorota Rowczenio
Total number of public variants reported 3
Unique public DNA variants reported 3
Individuals with public variants 7
Hidden variants 0
Notes We acknowledge support from EURAMY for the development of this database.
Date created May 03, 2013
Date last updated May 09, 2022
Version B2M:220509

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_004048.2.
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
External URL Mutations in Hereditary Amyloidosis; consortium homepage
Graphical display B2M variants on cDNA sequence
HGNC 914
Entrez Gene 567
PubMed articles B2M
OMIM - Gene 109700
OMIM - Diseases IMD43 (Immunodeficiency 43)
amyloidosis, visceral (type VIII)
GeneCards B2M
GeneTests B2M
Orphanet B2M

Active transcripts




NCBI ID     

NCBI Protein ID     

00003201 15 beta-2-microglobulin NM_004048.2 NP_004039.1 3

Copyright & disclaimer
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