Canonical Allele Identifier: CA915940802
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 996160
ClinVar RCV Id: RCV001290454
dbSNP Id: rs2048505090
ERepo: CA915940802/MONDO:0010119/011 CA915940802/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372407_44372408delinsGC , CM000679.2:g.44372407_44372408delinsGC GRCh38
NC_000017.10:g.42449775_42449776delinsGC , CM000679.1:g.42449775_42449776delinsGC GRCh37
NC_000017.9:g.39805301_39805302delinsGC NCBI36
NG_008331.1:g.22098_22099delinsGC , LRG_479:g.22098_22099delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3076_3077delinsGC MANE Select ENSP00000262407.5:p.Arg1026Ala
ENST00000648408.1:c.2390_2391delinsGC
ENST00000262407.5:c.3076_3077delinsGC ENSP00000262407.5:p.Arg1026Ala
ENST00000587295.5:c.269_270delinsGC
ENST00000588098.1:c.53_54delinsGC
NM_000419.3:c.3076_3077delinsGC , LRG_479t1:c.3076_3077delinsGC NP_000410.2:p.Arg1026Ala
XM_011524749.1:c.2974_2975delinsGC XP_011523051.1:p.Arg992Ala
XM_011524750.1:c.2959_2960delinsGC XP_011523052.1:p.Arg987Ala
NM_000419.4:c.3076_3077delinsGC NP_000410.2:p.Arg1026Ala
NM_000419.5:c.3076_3077delinsGC MANE Select NP_000410.2:p.Arg1026Ala
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