Canonical Allele Identifier: CA2499222952
Community Standard Title: NM_004048.4(B2M):c.68-10T>C
Gene: B2M HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44715413T>C , CM000677.2:g.44715413T>C GRCh38
NC_000015.9:g.45007611T>C , CM000677.1:g.45007611T>C GRCh37
NC_000015.8:g.42794903T>C NCBI36
NG_012920.1:g.8927T>C
NG_012920.2:g.8937T>C

Transcript Alleles

HGVS Amino-acid Change
NM_004048.4:c.68-10T>C MANE Select NP_004039.1:n.68-10T>C
ENST00000648006.3:c.68-10T>C MANE Select ENSP00000497910.1:n.68-10T>C
NM_004048.2:c.68-10T>C NP_004039.1:n.68-10T>C
NM_004048.3:c.68-10T>C NP_004039.1:n.68-10T>C
ENST00000349264.10:c.58-133T>C ENSP00000340858.6:n.58-133T>C
ENST00000544417.5:c.68-10T>C ENSP00000437604.2:n.68-10T>C
ENST00000557901.5:c.68-21T>C ENSP00000452861.1:n.68-21T>C
ENST00000558401.5:c.68-10T>C ENSP00000452780.1:n.68-10T>C
ENST00000559220.1:n.42+865T>C
ENST00000559720.5:n.128-10T>C
ENST00000559907.5:n.95-10T>C
ENST00000559916.1:c.68-10T>C ENSP00000453350.1:n.68-10T>C
ENST00000560681.1:n.63-10T>C
ENST00000561424.5:c.68-10T>C ENSP00000453191.1:n.68-10T>C
ENST00000695792.1:n.84-10T>C
XM_005254549.2:c.68-10T>C XP_005254606.1:n.68-10T>C
XM_005254549.3:c.68-10T>C XP_005254606.1:n.68-10T>C
XR_002957658.1:n.123-10T>C