Canonical Allele Identifier: CA8602920
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs764584510
ExAC: 17:42457034 GGCCTGTCCCT / G
gnomAD v2: 17-42457034-GGCCTGTCCCT-G
MyVariant Identifiers: chr17:g.42457035_42457044del (hg19) chr17:g.44379667_44379676del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44379677_44379686del , CM000679.2:g.44379677_44379686del GRCh38
NC_000017.10:g.42457045_42457054del , CM000679.1:g.42457045_42457054del GRCh37
NC_000017.9:g.39812571_39812580del NCBI36
NG_008331.1:g.14830_14839del , LRG_479:g.14830_14839del

Transcript Alleles

HGVS Amino-acid change
ENST00000262407.6:c.1878+13_1878+22del MANE Select ENSP00000262407.5:n.1878+13_1878+22del
ENST00000648408.1:c.1309+13_1309+22del
ENST00000262407.5:c.1878+13_1878+22del ENSP00000262407.5:n.1878+13_1878+22del
ENST00000592462.5:n.673+13_673+22del
NM_000419.3:c.1878+13_1878+22del , LRG_479t1:c.1878+13_1878+22del NP_000410.2:n.1878+13_1878+22del
XM_011524749.1:c.1878+13_1878+22del XP_011523051.1:n.1878+13_1878+22del
XM_011524750.1:c.1878+13_1878+22del XP_011523052.1:n.1878+13_1878+22del
NM_000419.4:c.1878+13_1878+22del NP_000410.2:n.1878+13_1878+22del
NM_000419.5:c.1878+13_1878+22del MANE Select NP_000410.2:n.1878+13_1878+22del
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