Canonical Allele Identifier: CA772285313
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs1410904764
gnomAD v4: 17-44374621-CT-C
MyVariant Identifiers: chr17:g.42451990del (hg19) chr17:g.44374622del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374622del , CM000679.2:g.44374622del GRCh38
NC_000017.10:g.42451990del , CM000679.1:g.42451990del GRCh37
NC_000017.9:g.39807516del NCBI36
NG_008331.1:g.19884del , LRG_479:g.19884del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2943+37del MANE Select ENSP00000262407.5:n.2943+37del
ENST00000648408.1:c.2374+37del
ENST00000262407.5:c.2943+37del ENSP00000262407.5:n.2943+37del
ENST00000587295.5:c.253+1211del
ENST00000588098.1:c.37+37del
ENST00000592462.5:n.2491del
NM_000419.3:c.2943+37del , LRG_479t1:c.2943+37del NP_000410.2:n.2943+37del
XM_011524749.1:c.2842-152del XP_011523051.1:n.2842-152del
XM_011524750.1:c.2943+37del XP_011523052.1:n.2943+37del
NM_000419.4:c.2943+37del NP_000410.2:n.2943+37del
NM_000419.5:c.2943+37del MANE Select NP_000410.2:n.2943+37del
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