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B2M

Basic information

Official gene symbol
beta-2-microglobulin
Conventional gene symbol
IMD43
Classification
Tumor suppressor gene
Official gene ID
567(Refseq)
567 (KEGG)
Transcript ID
NM_004048
Functional classification
Immune
Signaling pathway
Immune
Chromosomal location
15q21.1 (chr15:45003745..45008540)
Protein length
119

Chromosome ideogram

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chr15:45003745 A G 1 / 4 p.M1? c.1A>G COSV62562870 Tier2 4 / 92
chr15:45003745 A T 1 / 4 p.M1? c.1A>T COSV62562840 Tier2 2 / 92
chr15:45003746 T C 1 / 4 p.M1? c.2T>C COSV62563174 Tier2 2 / 92
chr15:45003750 TCG T 1 / 4 p.R3fs c.8_9delGC   Tier2 1 / 92
chr15:45003780 ACT A 1 / 4 p.L15fs c.43_44delCT COSV62562847 Tier2 32 / 92
chr15:45003780 A ACT 1 / 4 p.S16fs c.43_44dupCT   Tier2 1 / 92
chr15:45003785 CTCTT C 1 / 4 p.S16fs c.45_48delTTCT COSV62562863|COSV62562993 Tier2 9 / 92
chr15:45007665 G T 2 / 4 p.G38* c.112G>T   Tier2 1 / 92
chr15:45007672 C A 2 / 4 p.S40* c.119C>A   Tier2 2 / 92
chr15:45007688 CTA C 2 / 4 p.Y46fs c.137_138delAT COSV62563472 Tier2 2 / 92
chr15:45007688 C A 2 / 4 p.C45* c.135C>A COSV62563284 Tier2 1 / 92
chr15:45007719 G T 2 / 4 p.E56* c.166G>T COSV62563605 Tier2 1 / 92
chr15:45007729 T G 2 / 4 p.L59* c.176T>G   Tier2 1 / 92
chr15:45007740 G T 2 / 4 p.G63* c.187G>T COSV62564125 Tier2 1 / 92
chr15:45007740 GGA G 2 / 4 p.R65fs c.194_195delGA COSV62563423 Tier2 1 / 92
chr15:45007747 GA G 2 / 4 p.I66fs c.196delA   Tier2 1 / 92
chr15:45007752 G T 2 / 4 p.E67* c.199G>T COSV62564724 Tier2 1 / 92
chr15:45007793 G A 2 / 4 p.W80* c.240G>A   Tier2 1 / 92
chr15:45007799 CTA C 2 / 4 p.Y83fs c.248_249delAT COSV62563005 Tier2 1 / 92
chr15:45007801 ATC A 2 / 4 p.L85fs c.252_253delCT COSV62567214 Tier2 1 / 92
chr15:45007818 G T 2 / 4 p.E89* c.265G>T COSV62563917 Tier2 1 / 92
chr15:45007883 CAA C 2 / 4 p.K111fs c.331_332delAA   Tier2 1 / 92
chr15:45008529 C T 3 / 4 p.R117* c.349C>T COSV62562883 Tier2 1 / 92