Canonical Allele Identifier: CA392232221

Gene: B2M

Linked Data

• ClinVar Variation Id: 2028582
• ClinVar RCV Id: RCV002893947
• MyVariant Identifiers: chr15:g.45003796C>G (hg19) ; chr15:g.44711598C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711598C>G , CM000677.2:g.44711598C>G	GRCh38
NC_000015.9:g.45003796C>G , CM000677.1:g.45003796C>G	GRCh37
NC_000015.8:g.42791088C>G	NCBI36
NG_012920.1:g.5112C>G
NG_012920.2:g.5122C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695792.1:n.83+158C>G
ENST00000648006.3:c.52C>G MANE Select	ENSP00000497910.1:p.Leu18Val
ENST00000349264.10:c.52C>G	ENSP00000340858.6:p.Leu18Val
ENST00000544417.5:c.52C>G	ENSP00000437604.2:p.Leu18Val
ENST00000557901.5:c.52C>G	ENSP00000452861.1:p.Leu18Val
ENST00000558401.5:c.52C>G	ENSP00000452780.1:p.Leu18Val
ENST00000559720.5:n.112C>G
ENST00000559916.1:c.52C>G	ENSP00000453350.1:p.Leu18Val
ENST00000561424.5:c.52C>G	ENSP00000453191.1:p.Leu18Val
NM_004048.2:c.52C>G	NP_004039.1:p.Leu18Val
XM_005254549.2:c.52C>G	XP_005254606.1:p.Leu18Val
NM_004048.3:c.52C>G	NP_004039.1:p.Leu18Val
XM_005254549.3:c.52C>G	XP_005254606.1:p.Leu18Val
XR_002957658.1:n.107C>G
NM_004048.4:c.52C>G MANE Select	NP_004039.1:p.Leu18Val