Canonical Allele Identifier: CA9728171
Gene: SIRPB2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1478415T>G , CM000682.2:g.1478415T>G GRCh38
NC_000020.10:g.1459060T>G , CM000682.1:g.1459060T>G GRCh37
NC_000020.9:g.1407060T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000359801.8:c.644A>C MANE Select ENSP00000352849.3:p.Glu215Ala
ENST00000359801.7:c.644A>C ENSP00000352849.3:p.Glu215Ala
ENST00000381630.2:n.374A>C
ENST00000444444.2:c.350A>C ENSP00000402438.1:p.Glu117Ala
ENST00000481731.5:c.644A>C ENSP00000432656.1:p.Glu215Ala
ENST00000486775.5:c.644A>C ENSP00000435045.1:p.Glu215Ala
ENST00000608747.1:n.476A>C
NM_001122962.1:c.644A>C NP_001116434.1:p.Glu215Ala
NM_001134836.1:c.350A>C NP_001128308.1:p.Glu117Ala
XM_005260708.3:c.644A>C XP_005260765.1:p.Glu215Ala
XM_005260709.3:c.350A>C XP_005260766.1:p.Glu117Ala
XM_011529221.1:c.503A>C XP_011527523.1:p.Glu168Ala
XM_011529222.1:c.644A>C XP_011527524.1:p.Glu215Ala
XM_011529223.1:c.230A>C XP_011527525.1:p.Glu77Ala
XM_011529224.1:c.230A>C XP_011527526.1:p.Glu77Ala
XM_011529225.1:c.203A>C XP_011527527.1:p.Glu68Ala
XR_937063.1:n.691A>C
XM_005260708.4:c.644A>C XP_005260765.1:p.Glu215Ala
XM_011529221.2:c.503A>C XP_011527523.1:p.Glu168Ala
XM_011529223.2:c.230A>C XP_011527525.1:p.Glu77Ala
XM_011529224.2:c.230A>C XP_011527526.1:p.Glu77Ala
XM_011529225.2:c.203A>C XP_011527527.1:p.Glu68Ala
NM_001122962.2:c.644A>C MANE Select NP_001116434.1:p.Glu215Ala
NM_001134836.2:c.350A>C NP_001128308.1:p.Glu117Ala