Canonical Allele Identifier: CA16602809
Gene: B2M HGNC NCBI

Linked Data

ClinVar Variation Id: 376370
ClinVar RCV Id: RCV000421861 RCV000422880 RCV000425118 RCV000430300 RCV000431428 RCV000432545 RCV000432685 RCV000439880 RCV000440097 RCV000441906
dbSNP Id: rs1023835002
COSMIC: COSM220667 COSM3501594
MyVariant Identifiers: chr15:g.45003745A>T (hg19) chr15:g.44711547A>T (hg38)
PubMed: PMID:26619011
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711547A>T , CM000677.2:g.44711547A>T GRCh38
NC_000015.9:g.45003745A>T , CM000677.1:g.45003745A>T GRCh37
NC_000015.8:g.42791037A>T NCBI36
NG_012920.1:g.5061A>T
NG_012920.2:g.5071A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695792.1:n.83+107A>T
ENST00000648006.3:c.1A>T MANE Select ENSP00000497910.1:p.Met1Leu
ENST00000349264.10:c.1A>T ENSP00000340858.6:p.Met1Leu
ENST00000544417.5:c.1A>T ENSP00000437604.2:p.Met1Leu
ENST00000557901.5:c.1A>T ENSP00000452861.1:p.Met1Leu
ENST00000558401.5:c.1A>T ENSP00000452780.1:p.Met1Leu
ENST00000559720.5:n.61A>T
ENST00000559916.1:c.1A>T ENSP00000453350.1:p.Met1Leu
ENST00000561424.5:c.1A>T ENSP00000453191.1:p.Met1Leu
NM_004048.2:c.1A>T NP_004039.1:p.Met1Leu
XM_005254549.2:c.1A>T XP_005254606.1:p.Met1Leu
NM_004048.3:c.1A>T NP_004039.1:p.Met1Leu
XM_005254549.3:c.1A>T XP_005254606.1:p.Met1Leu
XR_002957658.1:n.56A>T
NM_004048.4:c.1A>T MANE Select NP_004039.1:p.Met1Leu
Search 100 bp 5'
Search 100 bp 3'