Canonical Allele Identifier: CA2654866986

Gene: ITGB2

Linked Data

• gnomAD v4: 21-44893420-ACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44893422_44893423del , CM000683.2:g.44893422_44893423del	GRCh38
NC_000021.8:g.46313337_46313338del , CM000683.1:g.46313337_46313338del	GRCh37
NC_000021.7:g.45137765_45137766del	NCBI36
NG_007270.2:g.40417_40418del , LRG_76:g.40417_40418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1278_1279del	ENSP00000303242.6:p.Val427AlafsTer?
ENST00000652462.1:c.1206_1207del MANE Select	ENSP00000498780.1:p.Val403AlafsTer?
ENST00000302347.9:c.1206_1207del	ENSP00000303242.5:p.Val403AlafsTer?
ENST00000355153.8:c.1206_1207del	ENSP00000347279.4:p.Val403AlafsTer?
ENST00000397850.6:c.1206_1207del	ENSP00000380948.2:p.Val403AlafsTer?
ENST00000397852.5:c.1206_1207del	ENSP00000380950.1:p.Val403AlafsTer?
ENST00000397854.7:c.1035_1036del	ENSP00000380952.3:p.Val346AlafsTer?
ENST00000397857.5:c.1206_1207del	ENSP00000380955.1:p.Val403AlafsTer?
ENST00000475170.5:n.606_607del
ENST00000498666.5:n.2775_2776del
ENST00000523323.5:c.*1033_*1034del	ENSP00000427732.1:n.*1033_*1034del
ENST00000610622.4:c.1035_1036del	ENSP00000480700.1:p.Val346AlafsTer?
NM_000211.4:c.1206_1207del	NP_000202.3:p.Val403AlafsTer?
NM_001127491.2:c.1206_1207del	NP_001120963.2:p.Val403AlafsTer?
NM_001303238.1:c.999_1000del	NP_001290167.1:p.Val334AlafsTer?
XM_006724001.1:c.999_1000del	XP_006724064.1:p.Val334AlafsTer?
XM_006724001.2:c.999_1000del	XP_006724064.1:p.Val334AlafsTer?
NM_000211.5:c.1206_1207del MANE Select	NP_000202.3:p.Val403AlafsTer?
NM_001127491.3:c.1206_1207del	NP_001120963.2:p.Val403AlafsTer?
NM_001303238.2:c.999_1000del	NP_001290167.1:p.Val334AlafsTer?