Canonical Allele Identifier: CA490206914

Gene: B2M

Linked Data

• ClinVar Variation Id: 2417400
• ClinVar RCV Id: RCV003114869
• dbSNP Id: rs1955559674
• gnomAD v4: 15-44711570-T-C
• MyVariant Identifiers: chr15:g.45003768T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.44711570T>C , CM000677.2:g.44711570T>C	GRCh38
NC_000015.9:g.45003768T>C , CM000677.1:g.45003768T>C	GRCh37
NC_000015.8:g.42791060T>C	NCBI36
NG_012920.1:g.5084T>C
NG_012920.2:g.5094T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695792.1:n.83+130T>C
ENST00000648006.3:c.24T>C MANE Select	ENSP00000497910.1:p.Ala8=
ENST00000349264.10:c.24T>C	ENSP00000340858.6:p.Ala8=
ENST00000544417.5:c.24T>C	ENSP00000437604.2:p.Ala8=
ENST00000557901.5:c.24T>C	ENSP00000452861.1:p.Ala8=
ENST00000558401.5:c.24T>C	ENSP00000452780.1:p.Ala8=
ENST00000559720.5:n.84T>C
ENST00000559916.1:c.24T>C	ENSP00000453350.1:p.Ala8=
ENST00000561424.5:c.24T>C	ENSP00000453191.1:p.Ala8=
NM_004048.2:c.24T>C	NP_004039.1:p.Ala8=
XM_005254549.2:c.24T>C	XP_005254606.1:p.Ala8=
NM_004048.3:c.24T>C	NP_004039.1:p.Ala8=
XM_005254549.3:c.24T>C	XP_005254606.1:p.Ala8=
XR_002957658.1:n.79T>C
NM_004048.4:c.24T>C MANE Select	NP_004039.1:p.Ala8=