Canonical Allele Identifier: CA915940726
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1330312
ClinVar RCV Id: RCV001803405
dbSNP Id: rs2143428858
ERepo: CA915940726/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374672_44374673del , CM000679.2:g.44374672_44374673del GRCh38
NC_000017.10:g.42452040_42452041del , CM000679.1:g.42452040_42452041del GRCh37
NC_000017.9:g.39807566_39807567del NCBI36
NG_008331.1:g.19833_19834del , LRG_479:g.19833_19834del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2929_2930del MANE Select ENSP00000262407.5:p.Glu979SerfsTer?
ENST00000648408.1:c.2360_2361del
ENST00000262407.5:c.2929_2930del ENSP00000262407.5:p.Glu979SerfsTer?
ENST00000587295.5:c.253+1160_253+1161del
ENST00000588098.1:c.23_24del
ENST00000592462.5:n.2440_2441del
NM_000419.3:c.2929_2930del , LRG_479t1:c.2929_2930del NP_000410.2:p.Glu979SerfsTer?
XM_011524749.1:c.2842-203_2842-202del XP_011523051.1:n.2842-203_2842-202del
XM_011524750.1:c.2929_2930del XP_011523052.1:p.Glu979SerfsTer17
NM_000419.4:c.2929_2930del NP_000410.2:p.Glu979SerfsTer?
NM_000419.5:c.2929_2930del MANE Select NP_000410.2:p.Glu979SerfsTer?
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