Canonical Allele Identifier: CA915940323
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1691488
ClinVar RCV Id: RCV002254823 RCV004526920
dbSNP Id: rs2143417444
gnomAD v4: 17-44372391-CA-C
ERepo: CA915940323/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372392del , CM000679.2:g.44372392del GRCh38
NC_000017.10:g.42449760del , CM000679.1:g.42449760del GRCh37
NC_000017.9:g.39805286del NCBI36
NG_008331.1:g.22114del , LRG_479:g.22114del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3092del MANE Select ENSP00000262407.5:p.Leu1031ArgfsTer?
ENST00000648408.1:c.2406del
ENST00000262407.5:c.3092del ENSP00000262407.5:p.Leu1031ArgfsTer?
ENST00000587295.5:c.285del
ENST00000588098.1:c.69del
NM_000419.3:c.3092del , LRG_479t1:c.3092del NP_000410.2:p.Leu1031ArgfsTer?
XM_011524749.1:c.2990del XP_011523051.1:p.Leu997ArgfsTer?
XM_011524750.1:c.2975del XP_011523052.1:p.Leu992ArgfsTer?
NM_000419.4:c.3092del NP_000410.2:p.Leu1031ArgfsTer?
NM_000419.5:c.3092del MANE Select NP_000410.2:p.Leu1031ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'