Canonical Allele Identifier: CA2499224662
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1074062
ClinVar RCV Id: RCV001387239
dbSNP Id: rs2143465205
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44381022del , CM000679.2:g.44381022del GRCh38
NC_000017.10:g.42458390del , CM000679.1:g.42458390del GRCh37
NC_000017.9:g.39813916del NCBI36
NG_008331.1:g.13487del , LRG_479:g.13487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.1253del MANE Select ENSP00000262407.5:p.Gly418AlafsTer13
ENST00000648408.1:c.684del
ENST00000262407.5:c.1253del ENSP00000262407.5:p.Gly418AlafsTer13
ENST00000592226.5:n.493del
ENST00000592462.5:n.48del
NM_000419.3:c.1253del , LRG_479t1:c.1253del NP_000410.2:p.Gly418AlafsTer13
XM_011524749.1:c.1253del XP_011523051.1:p.Gly418AlafsTer13
XM_011524750.1:c.1253del XP_011523052.1:p.Gly418AlafsTer13
NM_000419.4:c.1253del NP_000410.2:p.Gly418AlafsTer13
NM_000419.5:c.1253del MANE Select NP_000410.2:p.Gly418AlafsTer13
Search 100 bp 5'
Search 100 bp 3'