Canonical Allele Identifier: CA7536257

Gene: B2M

Linked Data

• ClinVar Variation Id: 1011724
• ClinVar RCV Id: RCV001309565
• dbSNP Id: rs765817584
• ExAC: 15:45003751 C / T
• gnomAD v2: 15-45003751-C-T
• gnomAD v3: 15-44711553-C-T
• gnomAD v4: 15-44711553-C-T
• COSMIC: COSM433951 ; COSM3932100
• MyVariant Identifiers: chr15:g.45003751C>T (hg19) ; chr15:g.44711553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711553C>T , CM000677.2:g.44711553C>T	GRCh38
NC_000015.9:g.45003751C>T , CM000677.1:g.45003751C>T	GRCh37
NC_000015.8:g.42791043C>T	NCBI36
NG_012920.1:g.5067C>T
NG_012920.2:g.5077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695792.1:n.83+113C>T
ENST00000648006.3:c.7C>T MANE Select	ENSP00000497910.1:p.Arg3Cys
ENST00000349264.10:c.7C>T	ENSP00000340858.6:p.Arg3Cys
ENST00000544417.5:c.7C>T	ENSP00000437604.2:p.Arg3Cys
ENST00000557901.5:c.7C>T	ENSP00000452861.1:p.Arg3Cys
ENST00000558401.5:c.7C>T	ENSP00000452780.1:p.Arg3Cys
ENST00000559720.5:n.67C>T
ENST00000559916.1:c.7C>T	ENSP00000453350.1:p.Arg3Cys
ENST00000561424.5:c.7C>T	ENSP00000453191.1:p.Arg3Cys
NM_004048.2:c.7C>T	NP_004039.1:p.Arg3Cys
XM_005254549.2:c.7C>T	XP_005254606.1:p.Arg3Cys
NM_004048.3:c.7C>T	NP_004039.1:p.Arg3Cys
XM_005254549.3:c.7C>T	XP_005254606.1:p.Arg3Cys
XR_002957658.1:n.62C>T
NM_004048.4:c.7C>T MANE Select	NP_004039.1:p.Arg3Cys