Canonical Allele Identifier: CA249759
Gene: ITGB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 100747
ClinVar RCV Id: RCV000087109
dbSNP Id: rs483352817
gnomAD v4: 21-44893484-AG-A
MyVariant Identifiers: chr21:g.46313400del (hg19) chr21:g.44893485del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44893486del , CM000683.2:g.44893486del GRCh38
NC_000021.8:g.46313401del , CM000683.1:g.46313401del GRCh37
NC_000021.7:g.45137829del NCBI36
NG_007270.2:g.40354del , LRG_76:g.40354del

Transcript Alleles

HGVS Amino-acid change
ENST00000302347.10:c.1215del ENSP00000303242.6:p.Tyr406ThrfsTer9
ENST00000652462.1:c.1143del MANE Select ENSP00000498780.1:p.Tyr382ThrfsTer9
ENST00000302347.9:c.1143del ENSP00000303242.5:p.Tyr382ThrfsTer9
ENST00000355153.8:c.1143del ENSP00000347279.4:p.Tyr382ThrfsTer9
ENST00000397850.6:c.1143del ENSP00000380948.2:p.Tyr382ThrfsTer9
ENST00000397852.5:c.1143del ENSP00000380950.1:p.Tyr382ThrfsTer9
ENST00000397854.7:c.972del ENSP00000380952.3:p.Tyr325ThrfsTer9
ENST00000397857.5:c.1143del ENSP00000380955.1:p.Tyr382ThrfsTer9
ENST00000475170.5:n.543del
ENST00000498666.5:n.2712del
ENST00000523323.5:c.*970del ENSP00000427732.1:n.*970del
ENST00000610622.4:c.972del ENSP00000480700.1:p.Tyr325ThrfsTer9
NM_000211.4:c.1143del NP_000202.3:p.Tyr382ThrfsTer9
NM_001127491.2:c.1143del NP_001120963.2:p.Tyr382ThrfsTer9
NM_001303238.1:c.936del NP_001290167.1:p.Tyr313ThrfsTer9
XM_006724001.1:c.936del XP_006724064.1:p.Tyr313ThrfsTer9
XM_006724001.2:c.936del XP_006724064.1:p.Tyr313ThrfsTer9
NM_000211.5:c.1143del MANE Select NP_000202.3:p.Tyr382ThrfsTer9
NM_001127491.3:c.1143del NP_001120963.2:p.Tyr382ThrfsTer9
NM_001303238.2:c.936del NP_001290167.1:p.Tyr313ThrfsTer9
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