Canonical Allele Identifier: CA1022758459

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 1642661
• ClinVar RCV Id: RCV002143456
• dbSNP Id: rs2083747036
• gnomAD v3: 21-44889205-AGCCCGGCTGCTGGGTAGGTGGCCGGGGAGTGGGGATCCCTGCCCGCCCTGCCT-A
• gnomAD v4: 21-44889205-AGCCCGGCTGCTGGGTAGGTGGCCGGGGAGTGGGGATCCCTGCCCGCCCTGCCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44889208_44889260del , CM000683.2:g.44889208_44889260del	GRCh38
NC_000021.8:g.46309123_46309175del , CM000683.1:g.46309123_46309175del	GRCh37
NC_000021.7:g.45133551_45133603del	NCBI36
NG_007270.2:g.44581_44633del , LRG_76:g.44581_44633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1084+18_1084+70del
ENST00000302347.10:c.1949+18_1949+70del	ENSP00000303242.6:n.1949+18_1949+70del
ENST00000652462.1:c.1877+18_1877+70del MANE Select	ENSP00000498780.1:n.1877+18_1877+70del
ENST00000302347.9:c.1877+18_1877+70del	ENSP00000303242.5:n.1877+18_1877+70del
ENST00000355153.8:c.1877+18_1877+70del	ENSP00000347279.4:n.1877+18_1877+70del
ENST00000397850.6:c.1877+18_1877+70del	ENSP00000380948.2:n.1877+18_1877+70del
ENST00000397852.5:c.1877+18_1877+70del	ENSP00000380950.1:n.1877+18_1877+70del
ENST00000397854.7:c.1706+18_1706+70del	ENSP00000380952.3:n.1706+18_1706+70del
ENST00000397857.5:c.1877+18_1877+70del	ENSP00000380955.1:n.1877+18_1877+70del
ENST00000475170.5:n.1277+18_1277+70del
ENST00000498666.5:n.3933+18_3933+70del
ENST00000523323.5:c.*1704+18_*1704+70del	ENSP00000427732.1:n.*1704+18_*1704+70del
ENST00000610622.4:c.*568+18_*568+70del	ENSP00000480700.1:n.*568+18_*568+70del
NM_000211.4:c.1877+18_1877+70del	NP_000202.3:n.1877+18_1877+70del
NM_001127491.2:c.1877+18_1877+70del	NP_001120963.2:n.1877+18_1877+70del
NM_001303238.1:c.1670+18_1670+70del	NP_001290167.1:n.1670+18_1670+70del
XM_006724001.1:c.1670+18_1670+70del	XP_006724064.1:n.1670+18_1670+70del
XM_006724001.2:c.1670+18_1670+70del	XP_006724064.1:n.1670+18_1670+70del
NM_000211.5:c.1877+18_1877+70del MANE Select	NP_000202.3:n.1877+18_1877+70del
NM_001127491.3:c.1877+18_1877+70del	NP_001120963.2:n.1877+18_1877+70del
NM_001303238.2:c.1670+18_1670+70del	NP_001290167.1:n.1670+18_1670+70del