Canonical Allele Identifier: CA915940322
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1879040
ClinVar RCV Id: RCV002511541
ERepo: CA915940322/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372396del , CM000679.2:g.44372396del GRCh38
NC_000017.10:g.42449764del , CM000679.1:g.42449764del GRCh37
NC_000017.9:g.39805290del NCBI36
NG_008331.1:g.22113del , LRG_479:g.22113del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3091del MANE Select ENSP00000262407.5:p.Leu1031TrpfsTer?
ENST00000648408.1:c.2405del
ENST00000262407.5:c.3091del ENSP00000262407.5:p.Leu1031TrpfsTer?
ENST00000587295.5:c.284del
ENST00000588098.1:c.68del
NM_000419.3:c.3091del , LRG_479t1:c.3091del NP_000410.2:p.Leu1031TrpfsTer?
XM_011524749.1:c.2989del XP_011523051.1:p.Leu997TrpfsTer?
XM_011524750.1:c.2974del XP_011523052.1:p.Leu992TrpfsTer?
NM_000419.4:c.3091del NP_000410.2:p.Leu1031TrpfsTer?
NM_000419.5:c.3091del MANE Select NP_000410.2:p.Leu1031TrpfsTer?
Search 100 bp 5'
Search 100 bp 3'