Canonical Allele Identifier: CA2573131754
Community Standard Title: NM_000419.5(ITGA2B):c.2390del (p.Gly797ValfsTer29)
Gene: ITGA2B HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44376144del , CM000679.2:g.44376144del GRCh38
NC_000017.10:g.42453512del , CM000679.1:g.42453512del GRCh37
NC_000017.9:g.39809038del NCBI36
NG_008331.1:g.18363del , LRG_479:g.18363del

Transcript Alleles

HGVS Amino-acid Change
NM_000419.5:c.2390del MANE Select NP_000410.2:p.Gly797ValfsTer29
ENST00000262407.6:c.2390del MANE Select ENSP00000262407.5:p.Gly797ValfsTer29
NM_000419.3:c.2390del , LRG_479t1:c.2390del NP_000410.2:p.Gly797ValfsTer29
NM_000419.4:c.2390del NP_000410.2:p.Gly797ValfsTer29
ENST00000262407.5:c.2390del ENSP00000262407.5:p.Gly797ValfsTer29
ENST00000587295.5:c.42del
ENST00000592462.5:n.1185del
ENST00000648408.1:c.1821del
XM_011524749.1:c.2390del XP_011523051.1:p.Gly797ValfsTer29
XM_011524750.1:c.2390del XP_011523052.1:p.Gly797ValfsTer29
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