Canonical Allele Identifier: CA626119012
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs1355285000
gnomAD v2: 17-42449793-TG-T
gnomAD v4: 17-44372425-TG-T
MyVariant Identifiers: chr17:g.42449794del (hg19) chr17:g.44372426del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372430del , CM000679.2:g.44372430del GRCh38
NC_000017.10:g.42449798del , CM000679.1:g.42449798del GRCh37
NC_000017.9:g.39805324del NCBI36
NG_008331.1:g.22080del , LRG_479:g.22080del

Transcript Alleles

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