Canonical Allele Identifier: CA2594317836
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs2048507072
gnomAD v3: 17-44372631-ATT-A
gnomAD v4: 17-44372631-ATT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372637_44372638del , CM000679.2:g.44372637_44372638del GRCh38
NC_000017.10:g.42450005_42450006del , CM000679.1:g.42450005_42450006del GRCh37
NC_000017.9:g.39805531_39805532del NCBI36
NG_008331.1:g.21873_21874del , LRG_479:g.21873_21874del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3061-210_3061-209del MANE Select ENSP00000262407.5:n.3061-210_3061-209del
ENST00000648408.1:c.2375-210_2375-209del
ENST00000262407.5:c.3061-210_3061-209del ENSP00000262407.5:n.3061-210_3061-209del
ENST00000587295.5:c.254-210_254-209del
ENST00000588098.1:c.38-210_38-209del
NM_000419.3:c.3061-210_3061-209del , LRG_479t1:c.3061-210_3061-209del NP_000410.2:n.3061-210_3061-209del
XM_011524749.1:c.2959-210_2959-209del XP_011523051.1:n.2959-210_2959-209del
XM_011524750.1:c.2944-210_2944-209del XP_011523052.1:n.2944-210_2944-209del
NM_000419.4:c.3061-210_3061-209del NP_000410.2:n.3061-210_3061-209del
NM_000419.5:c.3061-210_3061-209del MANE Select NP_000410.2:n.3061-210_3061-209del
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