Canonical Allele Identifier: CA2173755243
Community Standard Title: NM_004048.4(B2M):c.286G= (p.Asp96=)
Gene: B2M HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44715641G= , CM000677.2:g.44715641G= GRCh38
NC_000015.9:g.45007839G= , CM000677.1:g.45007839G= GRCh37
NC_000015.8:g.42795131G= NCBI36
NG_012920.1:g.9155G=
NG_012920.2:g.9165G=

Transcript Alleles

HGVS Amino-acid Change
NM_004048.4:c.286G= MANE Select NP_004039.1:p.Asp96=
ENST00000648006.3:c.286G= MANE Select ENSP00000497910.1:p.Asp96=
NM_004048.2:c.286G= NP_004039.1:p.Asp96=
NM_004048.3:c.286G= NP_004039.1:p.Asp96=
ENST00000349264.10:c.153G= ENSP00000340858.6:p.Lys51=
ENST00000544417.5:c.232G= ENSP00000437604.2:p.Asp78=
ENST00000557901.5:c.*119G= ENSP00000452861.1:n.*119G=
ENST00000558401.5:c.286G= ENSP00000452780.1:p.Asp96=
ENST00000559220.1:n.42+1093G=
ENST00000559720.5:n.346G=
ENST00000559907.5:n.313G=
ENST00000559916.1:c.286G= ENSP00000453350.1:p.Asp96=
ENST00000560681.1:n.281G=
ENST00000561139.1:c.142G= ENSP00000453186.1:p.Asp48=
ENST00000561139.2:c.142G= ENSP00000453186.1:p.Asp48=
ENST00000561424.5:c.286G= ENSP00000453191.1:p.Asp96=
ENST00000695792.1:n.302G=
XM_005254549.2:c.286G= XP_005254606.1:p.Asp96=
XM_005254549.3:c.286G= XP_005254606.1:p.Asp96=
XR_002957658.1:n.341G=