Canonical Allele Identifier: CA2638215123

Gene: ITGA2B

Linked Data

• gnomAD v4: 17-44375085-C-CACAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375090_44375094dup , CM000679.2:g.44375090_44375094dup	GRCh38
NC_000017.10:g.42452458_42452462dup , CM000679.1:g.42452458_42452462dup	GRCh37
NC_000017.9:g.39807984_39807988dup	NCBI36
NG_008331.1:g.19416_19420dup , LRG_479:g.19416_19420dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2749_2753dup MANE Select	ENSP00000262407.5:p.Val919LeufsTer?
ENST00000648408.1:c.2180_2184dup
ENST00000262407.5:c.2749_2753dup	ENSP00000262407.5:p.Val919LeufsTer?
ENST00000587295.5:c.253+743_253+747dup
ENST00000592462.5:n.2023_2027dup
NM_000419.3:c.2749_2753dup , LRG_479t1:c.2749_2753dup	NP_000410.2:p.Val919LeufsTer?
XM_011524749.1:c.2749_2753dup	XP_011523051.1:p.Val919LeufsTer?
XM_011524750.1:c.2749_2753dup	XP_011523052.1:p.Val919LeufsTer?
NM_000419.4:c.2749_2753dup	NP_000410.2:p.Val919LeufsTer?
NM_000419.5:c.2749_2753dup MANE Select	NP_000410.2:p.Val919LeufsTer?