Canonical Allele Identifier: CA2695230299

Gene: ITGB2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44899108del , CM000683.2:g.44899108del	GRCh38
NC_000021.8:g.46319023del , CM000683.1:g.46319023del	GRCh37
NC_000021.7:g.45143451del	NCBI36
NG_007270.2:g.34733del , LRG_76:g.34733del

Transcript Alleles

HGVS	Amino-acid Change
NM_000211.5:c.954del MANE Select	NP_000202.3:p.Ile319SerfsTer4
ENST00000652462.1:c.954del MANE Select	ENSP00000498780.1:p.Ile319SerfsTer4
NM_000211.4:c.954del	NP_000202.3:p.Ile319SerfsTer4
NM_001127491.2:c.954del	NP_001120963.2:p.Ile319SerfsTer4
NM_001127491.3:c.954del	NP_001120963.2:p.Ile319SerfsTer4
NM_001303238.1:c.747del	NP_001290167.1:p.Ile250SerfsTer4
NM_001303238.2:c.747del	NP_001290167.1:p.Ile250SerfsTer4
ENST00000302347.10:c.954del	ENSP00000303242.6:p.Ile319SerfsTer4
ENST00000302347.9:c.954del	ENSP00000303242.5:p.Ile319SerfsTer4
ENST00000320216.10:c.927del	ENSP00000317697.6:p.Ile310SerfsTer4
ENST00000355153.8:c.954del	ENSP00000347279.4:p.Ile319SerfsTer4
ENST00000397850.6:c.954del	ENSP00000380948.2:p.Ile319SerfsTer4
ENST00000397852.5:c.954del	ENSP00000380950.1:p.Ile319SerfsTer4
ENST00000397854.7:c.783del	ENSP00000380952.3:p.Ile262SerfsTer4
ENST00000397857.5:c.954del	ENSP00000380955.1:p.Ile319SerfsTer4
ENST00000498666.5:n.1097del
ENST00000523323.5:c.*781del	ENSP00000427732.1:n.*781del
ENST00000610622.4:c.783del	ENSP00000480700.1:p.Ile262SerfsTer4
XM_006724001.1:c.747del	XP_006724064.1:p.Ile250SerfsTer4
XM_006724001.2:c.747del	XP_006724064.1:p.Ile250SerfsTer4