Canonical Allele Identifier: CA8602460
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs756892424
ExAC: 17:42449779 TGAA / T
gnomAD v2: 17-42449779-TGAA-T
MyVariant Identifiers: chr17:g.42449780_42449782del (hg19) chr17:g.44372412_44372414del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372416_44372418del , CM000679.2:g.44372416_44372418del GRCh38
NC_000017.10:g.42449784_42449786del , CM000679.1:g.42449784_42449786del GRCh37
NC_000017.9:g.39805310_39805312del NCBI36
NG_008331.1:g.22092_22094del , LRG_479:g.22092_22094del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3070_3072del MANE Select ENSP00000262407.5:p.Phe1024del
ENST00000648408.1:c.2384_2386del
ENST00000262407.5:c.3070_3072del ENSP00000262407.5:p.Phe1024del
ENST00000587295.5:c.263_265del
ENST00000588098.1:c.47_49del
NM_000419.3:c.3070_3072del , LRG_479t1:c.3070_3072del NP_000410.2:p.Phe1024del
XM_011524749.1:c.2968_2970del XP_011523051.1:p.Phe990del
XM_011524750.1:c.2953_2955del XP_011523052.1:p.Phe985del
NM_000419.4:c.3070_3072del NP_000410.2:p.Phe1024del
NM_000419.5:c.3070_3072del MANE Select NP_000410.2:p.Phe1024del
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