Canonical Allele Identifier: CA915940262
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 952996
ClinVar RCV Id: RCV001225227
dbSNP Id: rs2048504402
ERepo: CA915940262/MONDO:0010119/011 CA915940262/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372366_44372370dup , CM000679.2:g.44372366_44372370dup GRCh38
NC_000017.10:g.42449734_42449738dup , CM000679.1:g.42449734_42449738dup GRCh37
NC_000017.9:g.39805260_39805264dup NCBI36
NG_008331.1:g.22137_22141dup , LRG_479:g.22137_22141dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3115_3119dup MANE Select ENSP00000262407.5:p.Ter1040TrpextTer?
ENST00000648408.1:c.2429_2433dup
ENST00000262407.5:c.3115_3119dup ENSP00000262407.5:p.Ter1040TrpextTer?
ENST00000587295.5:c.308_312dup
ENST00000588098.1:c.92_96dup
NM_000419.3:c.3115_3119dup , LRG_479t1:c.3115_3119dup NP_000410.2:p.Ter1040TrpextTer?
XM_011524749.1:c.3013_3017dup XP_011523051.1:p.Ter1006TrpextTer?
XM_011524750.1:c.2998_3002dup XP_011523052.1:p.Ter1001TrpextTer?
NM_000419.4:c.3115_3119dup NP_000410.2:p.Ter1040TrpextTer?
NM_000419.5:c.3115_3119dup MANE Select NP_000410.2:p.Ter1040TrpextTer?
Search 100 bp 5'
Search 100 bp 3'