Canonical Allele Identifier: CA490330634
Community Standard Title: NM_004048.4(B2M):c.168A>G (p.Glu56=)
Gene: B2M HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44715523A>G , CM000677.2:g.44715523A>G GRCh38
NC_000015.9:g.45007721A>G , CM000677.1:g.45007721A>G GRCh37
NC_000015.8:g.42795013A>G NCBI36
NG_012920.1:g.9037A>G
NG_012920.2:g.9047A>G

Transcript Alleles

HGVS Amino-acid Change
NM_004048.4:c.168A>G MANE Select NP_004039.1:p.Glu56=
ENST00000648006.3:c.168A>G MANE Select ENSP00000497910.1:p.Glu56=
NM_004048.2:c.168A>G NP_004039.1:p.Glu56=
NM_004048.3:c.168A>G NP_004039.1:p.Glu56=
ENST00000349264.10:c.58-23A>G ENSP00000340858.6:n.58-23A>G
ENST00000544417.5:c.114A>G ENSP00000437604.2:p.Glu38=
ENST00000557901.5:c.*1A>G ENSP00000452861.1:n.*1A>G
ENST00000558401.5:c.168A>G ENSP00000452780.1:p.Glu56=
ENST00000559220.1:n.42+975A>G
ENST00000559720.5:n.228A>G
ENST00000559907.5:n.195A>G
ENST00000559916.1:c.168A>G ENSP00000453350.1:p.Glu56=
ENST00000560681.1:n.163A>G
ENST00000561139.1:c.24A>G ENSP00000453186.1:p.Glu8=
ENST00000561139.2:c.24A>G ENSP00000453186.1:p.Glu8=
ENST00000561424.5:c.168A>G ENSP00000453191.1:p.Glu56=
ENST00000695792.1:n.184A>G
XM_005254549.2:c.168A>G XP_005254606.1:p.Glu56=
XM_005254549.3:c.168A>G XP_005254606.1:p.Glu56=
XR_002957658.1:n.223A>G