Canonical Allele Identifier: CA915940725
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1210173
ClinVar RCV Id: RCV001580216
dbSNP Id: rs2143429307
ERepo: CA915940725/MONDO:0010119/011 CA915940725/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374704_44374708dup , CM000679.2:g.44374704_44374708dup GRCh38
NC_000017.10:g.42452072_42452076dup , CM000679.1:g.42452072_42452076dup GRCh37
NC_000017.9:g.39807598_39807602dup NCBI36
NG_008331.1:g.19802_19806dup , LRG_479:g.19802_19806dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2898_2902dup MANE Select ENSP00000262407.5:p.Tyr968SerfsTer?
ENST00000648408.1:c.2329_2333dup
ENST00000262407.5:c.2898_2902dup ENSP00000262407.5:p.Tyr968SerfsTer?
ENST00000587295.5:c.253+1129_253+1133dup
ENST00000592462.5:n.2409_2413dup
NM_000419.3:c.2898_2902dup , LRG_479t1:c.2898_2902dup NP_000410.2:p.Tyr968SerfsTer?
XM_011524749.1:c.2842-234_2842-230dup XP_011523051.1:n.2842-234_2842-230dup
XM_011524750.1:c.2898_2902dup XP_011523052.1:p.Tyr968SerfsTer?
NM_000419.4:c.2898_2902dup NP_000410.2:p.Tyr968SerfsTer?
NM_000419.5:c.2898_2902dup MANE Select NP_000410.2:p.Tyr968SerfsTer?
Search 100 bp 5'
Search 100 bp 3'