Canonical Allele Identifier: CA2261364442
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs2048506636
gnomAD v4: 17-44372555-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372556del , CM000679.2:g.44372556del GRCh38
NC_000017.10:g.42449924del , CM000679.1:g.42449924del GRCh37
NC_000017.9:g.39805450del NCBI36
NG_008331.1:g.21950del , LRG_479:g.21950del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3061-133del MANE Select ENSP00000262407.5:n.3061-133del
ENST00000648408.1:c.2375-133del
ENST00000262407.5:c.3061-133del ENSP00000262407.5:n.3061-133del
ENST00000587295.5:c.254-133del
ENST00000588098.1:c.38-133del
NM_000419.3:c.3061-133del , LRG_479t1:c.3061-133del NP_000410.2:n.3061-133del
XM_011524749.1:c.2959-133del XP_011523051.1:n.2959-133del
XM_011524750.1:c.2944-133del XP_011523052.1:n.2944-133del
NM_000419.4:c.3061-133del NP_000410.2:n.3061-133del
NM_000419.5:c.3061-133del MANE Select NP_000410.2:n.3061-133del
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