Canonical Allele Identifier: CA279634

Gene: B2M

Linked Data

• ClinVar Variation Id: 217869
• ClinVar RCV Id: RCV000201934 ; RCV002478720
• dbSNP Id: rs863225287
• MyVariant Identifiers: chr15:g.45003812G>T (hg19) ; chr15:g.44711614G>T (hg38)
• PubMed: PMID:25702838

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711614G>T , CM000677.2:g.44711614G>T	GRCh38
NC_000015.9:g.45003812G>T , CM000677.1:g.45003812G>T	GRCh37
NC_000015.8:g.42791104G>T	NCBI36
NG_012920.1:g.5128G>T
NG_012920.2:g.5138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695792.1:n.83+174G>T
ENST00000648006.3:c.67+1G>T MANE Select	ENSP00000497910.1:n.67+1G>T
ENST00000349264.10:c.57+11G>T	ENSP00000340858.6:n.57+11G>T
ENST00000544417.5:c.67+1G>T	ENSP00000437604.2:n.67+1G>T
ENST00000557901.5:c.67+1G>T	ENSP00000452861.1:n.67+1G>T
ENST00000558401.5:c.67+1G>T	ENSP00000452780.1:n.67+1G>T
ENST00000559720.5:n.127+1G>T
ENST00000559916.1:c.67+1G>T	ENSP00000453350.1:n.67+1G>T
ENST00000561424.5:c.67+1G>T	ENSP00000453191.1:n.67+1G>T
NM_004048.2:c.67+1G>T	NP_004039.1:n.67+1G>T
XM_005254549.2:c.67+1G>T	XP_005254606.1:n.67+1G>T
NM_004048.3:c.67+1G>T	NP_004039.1:n.67+1G>T
XM_005254549.3:c.67+1G>T	XP_005254606.1:n.67+1G>T
XR_002957658.1:n.122+1G>T
NM_004048.4:c.67+1G>T MANE Select	NP_004039.1:n.67+1G>T