Canonical Allele Identifier: CA251327
Gene: B2M HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.44711577G>C
GRCh37 chr15:g.45003775G>C
Revel Score:
ENST00000349264 0.312
ENST00000544417 0.312
ENST00000396754 0.312
gnomAD v2:
15:45003775 G / C
gnomAD v4:
chr15-44711577-G-C
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
ClinVar RCV:
RCV000019314
ClinVar Variation:
17740
dbSNP:
104894481
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.44711577G>C , CM000677.2:g.44711577G>C GRCh38
NC_000015.9:g.45003775G>C , CM000677.1:g.45003775G>C GRCh37
NC_000015.8:g.42791067G>C NCBI36
NG_012920.1:g.5091G>C
NG_012920.2:g.5101G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695792.1:n.83+137G>C
ENST00000648006.3:c.31G>C MANE Select ENSP00000497910.1:p.Ala11Pro
ENST00000349264.10:c.31G>C ENSP00000340858.6:p.Ala11Pro
ENST00000544417.5:c.31G>C ENSP00000437604.2:p.Ala11Pro
ENST00000557901.5:c.31G>C ENSP00000452861.1:p.Ala11Pro
ENST00000558401.5:c.31G>C ENSP00000452780.1:p.Ala11Pro
ENST00000559720.5:n.91G>C
ENST00000559916.1:c.31G>C ENSP00000453350.1:p.Ala11Pro
ENST00000561424.5:c.31G>C ENSP00000453191.1:p.Ala11Pro
NM_004048.2:c.31G>C NP_004039.1:p.Ala11Pro
XM_005254549.2:c.31G>C XP_005254606.1:p.Ala11Pro
NM_004048.3:c.31G>C NP_004039.1:p.Ala11Pro
XM_005254549.3:c.31G>C XP_005254606.1:p.Ala11Pro
XR_002957658.1:n.86G>C
NM_004048.4:c.31G>C MANE Select NP_004039.1:p.Ala11Pro
Search 100 bp 5'
Search 100 bp 3'