Canonical Allele Identifier: CA772287391
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs1391619942

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44377784_44377787del , CM000679.2:g.44377784_44377787del GRCh38
NC_000017.10:g.42455152_42455155del , CM000679.1:g.42455152_42455155del GRCh37
NC_000017.9:g.39810678_39810681del NCBI36
NG_008331.1:g.16719_16722del , LRG_479:g.16719_16722del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2098_2101del MANE Select ENSP00000262407.5:p.Phe700ArgfsTer24
ENST00000648408.1:c.1529_1532del
ENST00000262407.5:c.2098_2101del ENSP00000262407.5:p.Phe700ArgfsTer24
ENST00000592462.5:n.893_896del
NM_000419.3:c.2098_2101del , LRG_479t1:c.2098_2101del NP_000410.2:p.Phe700ArgfsTer24
XM_011524749.1:c.2098_2101del XP_011523051.1:p.Phe700ArgfsTer24
XM_011524750.1:c.2098_2101del XP_011523052.1:p.Phe700ArgfsTer24
NM_000419.4:c.2098_2101del NP_000410.2:p.Phe700ArgfsTer24
NM_000419.5:c.2098_2101del MANE Select NP_000410.2:p.Phe700ArgfsTer24