Canonical Allele Identifier: CA7536310
Gene: B2M HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44715695A>C , CM000677.2:g.44715695A>C GRCh38
NC_000015.9:g.45007893A>C , CM000677.1:g.45007893A>C GRCh37
NC_000015.8:g.42795185A>C NCBI36
NG_012920.1:g.9209A>C
NG_012920.2:g.9219A>C

Transcript Alleles

HGVS Amino-acid Change
NM_004048.4:c.340A>C MANE Select NP_004039.1:p.Lys114Gln
ENST00000648006.3:c.340A>C MANE Select ENSP00000497910.1:p.Lys114Gln
NM_004048.2:c.340A>C NP_004039.1:p.Lys114Gln
NM_004048.3:c.340A>C NP_004039.1:p.Lys114Gln
ENST00000349264.10:c.*33A>C ENSP00000340858.6:n.*33A>C
ENST00000544417.5:c.286A>C ENSP00000437604.2:p.Lys96Gln
ENST00000557901.5:c.*173A>C ENSP00000452861.1:n.*173A>C
ENST00000558401.5:c.340A>C ENSP00000452780.1:p.Lys114Gln
ENST00000559220.1:n.42+1147A>C
ENST00000559720.5:n.400A>C
ENST00000559907.5:n.367A>C
ENST00000559916.1:c.340A>C ENSP00000453350.1:p.Lys114Gln
ENST00000560681.1:n.335A>C
ENST00000561139.1:c.196A>C ENSP00000453186.1:p.Lys66Gln
ENST00000561139.2:c.196A>C ENSP00000453186.1:p.Lys66Gln
ENST00000561424.5:c.340A>C ENSP00000453191.1:p.Lys114Gln
ENST00000695792.1:n.356A>C
XM_005254549.2:c.340A>C XP_005254606.1:p.Lys114Gln
XM_005254549.3:c.340A>C XP_005254606.1:p.Lys114Gln
XR_002957658.1:n.395A>C