Canonical Allele Identifier: CA983994149
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs2048506913
gnomAD v3: 17-44372600-TGG-T
gnomAD v4: 17-44372600-TGG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372602_44372603del , CM000679.2:g.44372602_44372603del GRCh38
NC_000017.10:g.42449970_42449971del , CM000679.1:g.42449970_42449971del GRCh37
NC_000017.9:g.39805496_39805497del NCBI36
NG_008331.1:g.21904_21905del , LRG_479:g.21904_21905del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3061-179_3061-178del MANE Select ENSP00000262407.5:n.3061-179_3061-178del
ENST00000648408.1:c.2375-179_2375-178del
ENST00000262407.5:c.3061-179_3061-178del ENSP00000262407.5:n.3061-179_3061-178del
ENST00000587295.5:c.254-179_254-178del
ENST00000588098.1:c.38-179_38-178del
NM_000419.3:c.3061-179_3061-178del , LRG_479t1:c.3061-179_3061-178del NP_000410.2:n.3061-179_3061-178del
XM_011524749.1:c.2959-179_2959-178del XP_011523051.1:n.2959-179_2959-178del
XM_011524750.1:c.2944-179_2944-178del XP_011523052.1:n.2944-179_2944-178del
NM_000419.4:c.3061-179_3061-178del NP_000410.2:n.3061-179_3061-178del
NM_000419.5:c.3061-179_3061-178del MANE Select NP_000410.2:n.3061-179_3061-178del
Search 100 bp 5'
Search 100 bp 3'