Canonical Allele Identifier: CA638496033

Gene: ITGB2

Linked Data

• dbSNP Id: rs2083956086
• gnomAD v2: 21-46321356-G-GC
• gnomAD v3: 21-44901441-G-GC
• gnomAD v4: 21-44901441-G-GC
• MyVariant Identifiers: chr21:g.46321356_46321357insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44901447dup , CM000683.2:g.44901447dup	GRCh38
NC_000021.8:g.46321362dup , CM000683.1:g.46321362dup	GRCh37
NC_000021.7:g.45145790dup	NCBI36
NG_007270.2:g.32397dup , LRG_76:g.32397dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000302347.10:c.741+50dup	ENSP00000303242.6:n.741+50dup
ENST00000652462.1:c.741+50dup MANE Select	ENSP00000498780.1:n.741+50dup
ENST00000302347.9:c.741+50dup	ENSP00000303242.5:n.741+50dup
ENST00000320216.10:c.714+50dup	ENSP00000317697.6:n.714+50dup
ENST00000355153.8:c.741+50dup	ENSP00000347279.4:n.741+50dup
ENST00000397850.6:c.741+50dup	ENSP00000380948.2:n.741+50dup
ENST00000397852.5:c.741+50dup	ENSP00000380950.1:n.741+50dup
ENST00000397854.7:c.570+50dup	ENSP00000380952.3:n.570+50dup
ENST00000397857.5:c.741+50dup	ENSP00000380955.1:n.741+50dup
ENST00000498666.5:n.884+50dup
ENST00000523323.5:c.*568+50dup	ENSP00000427732.1:n.*568+50dup
ENST00000610622.4:c.570+50dup	ENSP00000480700.1:n.570+50dup
NM_000211.4:c.741+50dup	NP_000202.3:n.741+50dup
NM_001127491.2:c.741+50dup	NP_001120963.2:n.741+50dup
NM_001303238.1:c.534+50dup	NP_001290167.1:n.534+50dup
XM_006724001.1:c.534+50dup	XP_006724064.1:n.534+50dup
XM_006724001.2:c.534+50dup	XP_006724064.1:n.534+50dup
NM_000211.5:c.741+50dup MANE Select	NP_000202.3:n.741+50dup
NM_001127491.3:c.741+50dup	NP_001120963.2:n.741+50dup
NM_001303238.2:c.534+50dup	NP_001290167.1:n.534+50dup