Canonical Allele Identifier: CA2638215125

Gene: ITGA2B

Linked Data

• gnomAD v4: 17-44375086-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375087del , CM000679.2:g.44375087del	GRCh38
NC_000017.10:g.42452455del , CM000679.1:g.42452455del	GRCh37
NC_000017.9:g.39807981del	NCBI36
NG_008331.1:g.19419del , LRG_479:g.19419del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2752del MANE Select	ENSP00000262407.5:p.Val918TrpfsTer?
ENST00000648408.1:c.2183del
ENST00000262407.5:c.2752del	ENSP00000262407.5:p.Val918TrpfsTer?
ENST00000587295.5:c.253+746del
ENST00000592462.5:n.2026del
NM_000419.3:c.2752del , LRG_479t1:c.2752del	NP_000410.2:p.Val918TrpfsTer?
XM_011524749.1:c.2752del	XP_011523051.1:p.Val918TrpfsTer?
XM_011524750.1:c.2752del	XP_011523052.1:p.Val918TrpfsTer?
NM_000419.4:c.2752del	NP_000410.2:p.Val918TrpfsTer?
NM_000419.5:c.2752del MANE Select	NP_000410.2:p.Val918TrpfsTer?