Canonical Allele Identifier: CA392232195
Gene: B2M HGNC NCBI

Linked Data

dbSNP Id: rs1356237470
COSMIC: COSM470705

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711583C>T , CM000677.2:g.44711583C>T GRCh38
NC_000015.9:g.45003781C>T , CM000677.1:g.45003781C>T GRCh37
NC_000015.8:g.42791073C>T NCBI36
NG_012920.1:g.5097C>T
NG_012920.2:g.5107C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.83+143C>T
ENST00000648006.3:c.37C>T MANE Select ENSP00000497910.1:p.Leu13Phe
ENST00000349264.10:c.37C>T ENSP00000340858.6:p.Leu13Phe
ENST00000544417.5:c.37C>T ENSP00000437604.2:p.Leu13Phe
ENST00000557901.5:c.37C>T ENSP00000452861.1:p.Leu13Phe
ENST00000558401.5:c.37C>T ENSP00000452780.1:p.Leu13Phe
ENST00000559720.5:n.97C>T
ENST00000559916.1:c.37C>T ENSP00000453350.1:p.Leu13Phe
ENST00000561424.5:c.37C>T ENSP00000453191.1:p.Leu13Phe
NM_004048.2:c.37C>T NP_004039.1:p.Leu13Phe
XM_005254549.2:c.37C>T XP_005254606.1:p.Leu13Phe
NM_004048.3:c.37C>T NP_004039.1:p.Leu13Phe
XM_005254549.3:c.37C>T XP_005254606.1:p.Leu13Phe
XR_002957658.1:n.92C>T
NM_004048.4:c.37C>T MANE Select NP_004039.1:p.Leu13Phe