Canonical Allele Identifier: CA392233911
Gene: B2M HGNC NCBI
MutSpliceDB:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44715702G>C , CM000677.2:g.44715702G>C GRCh38
NC_000015.9:g.45007900G>C , CM000677.1:g.45007900G>C GRCh37
NC_000015.8:g.42795192G>C NCBI36
NG_012920.1:g.9216G>C
NG_012920.2:g.9226G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561139.2:c.202+1G>C ENSP00000453186.1:n.202+1G>C
ENST00000695792.1:n.362+1G>C
ENST00000648006.3:c.346+1G>C MANE Select ENSP00000497910.1:n.346+1G>C
ENST00000349264.10:c.*39+1G>C ENSP00000340858.6:n.*39+1G>C
ENST00000544417.5:c.292+1G>C ENSP00000437604.2:n.292+1G>C
ENST00000557901.5:c.*179+1G>C ENSP00000452861.1:n.*179+1G>C
ENST00000558401.5:c.346+1G>C ENSP00000452780.1:n.346+1G>C
ENST00000559220.1:n.42+1154G>C
ENST00000559720.5:n.407G>C
ENST00000559907.5:n.373+1G>C
ENST00000559916.1:c.346+1G>C ENSP00000453350.1:n.346+1G>C
ENST00000560681.1:n.341+1G>C
ENST00000561139.1:c.202+1G>C ENSP00000453186.1:n.202+1G>C
ENST00000561424.5:c.346+1G>C ENSP00000453191.1:n.346+1G>C
NM_004048.2:c.346+1G>C NP_004039.1:n.346+1G>C
XM_005254549.2:c.347G>C XP_005254606.1:p.Gly116Ala
NM_004048.3:c.346+1G>C NP_004039.1:n.346+1G>C
XM_005254549.3:c.347G>C XP_005254606.1:p.Gly116Ala
XR_002957658.1:n.402G>C
NM_004048.4:c.346+1G>C MANE Select NP_004039.1:n.346+1G>C