Canonical Allele Identifier: CA129891

Gene: B2M

Linked Data

• ClinVar Variation Id: 31907
• ClinVar RCV Id: RCV000024598 ; RCV000989305
• dbSNP Id: rs398122820
• MyVariant Identifiers: chr15:g.45007839G>A (hg19) ; chr15:g.44715641G>A (hg38)
• PubMed: PMID:22693999

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561139.2:c.142G>A	ENSP00000453186.1:p.Asp48Asn
ENST00000695792.1:n.302G>A
ENST00000648006.3:c.286G>A MANE Select	ENSP00000497910.1:p.Asp96Asn
ENST00000349264.10:c.153G>A	ENSP00000340858.6:p.Lys51=
ENST00000544417.5:c.232G>A	ENSP00000437604.2:p.Asp78Asn
ENST00000557901.5:c.*119G>A	ENSP00000452861.1:n.*119G>A
ENST00000558401.5:c.286G>A	ENSP00000452780.1:p.Asp96Asn
ENST00000559220.1:n.42+1093G>A
ENST00000559720.5:n.346G>A
ENST00000559907.5:n.313G>A
ENST00000559916.1:c.286G>A	ENSP00000453350.1:p.Asp96Asn
ENST00000560681.1:n.281G>A
ENST00000561139.1:c.142G>A	ENSP00000453186.1:p.Asp48Asn
ENST00000561424.5:c.286G>A	ENSP00000453191.1:p.Asp96Asn
NM_004048.2:c.286G>A	NP_004039.1:p.Asp96Asn
XM_005254549.2:c.286G>A	XP_005254606.1:p.Asp96Asn
NM_004048.3:c.286G>A	NP_004039.1:p.Asp96Asn
XM_005254549.3:c.286G>A	XP_005254606.1:p.Asp96Asn
XR_002957658.1:n.341G>A
NM_004048.4:c.286G>A MANE Select	NP_004039.1:p.Asp96Asn