Canonical Allele Identifier: CA270117066
Gene: B2M HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44715633C>A , CM000677.2:g.44715633C>A GRCh38
NC_000015.9:g.45007831C>A , CM000677.1:g.45007831C>A GRCh37
NC_000015.8:g.42795123C>A NCBI36
NG_012920.1:g.9147C>A
NG_012920.2:g.9157C>A

Transcript Alleles

HGVS Amino-acid Change
NM_004048.4:c.278C>A MANE Select NP_004039.1:p.Thr93Asn
ENST00000648006.3:c.278C>A MANE Select ENSP00000497910.1:p.Thr93Asn
NM_004048.2:c.278C>A NP_004039.1:p.Thr93Asn
NM_004048.3:c.278C>A NP_004039.1:p.Thr93Asn
ENST00000349264.10:c.145C>A ENSP00000340858.6:p.Leu49Met
ENST00000544417.5:c.224C>A ENSP00000437604.2:p.Thr75Asn
ENST00000557901.5:c.*111C>A ENSP00000452861.1:n.*111C>A
ENST00000558401.5:c.278C>A ENSP00000452780.1:p.Thr93Asn
ENST00000559220.1:n.42+1085C>A
ENST00000559720.5:n.338C>A
ENST00000559907.5:n.305C>A
ENST00000559916.1:c.278C>A ENSP00000453350.1:p.Thr93Asn
ENST00000560681.1:n.273C>A
ENST00000561139.1:c.134C>A ENSP00000453186.1:p.Thr45Asn
ENST00000561139.2:c.134C>A ENSP00000453186.1:p.Thr45Asn
ENST00000561424.5:c.278C>A ENSP00000453191.1:p.Thr93Asn
ENST00000695792.1:n.294C>A
XM_005254549.2:c.278C>A XP_005254606.1:p.Thr93Asn
XM_005254549.3:c.278C>A XP_005254606.1:p.Thr93Asn
XR_002957658.1:n.333C>A