Canonical Allele Identifier: CA290942993
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs556078751
gnomAD v2: 17-42449988-CCT-C
gnomAD v3: 17-44372620-CCT-C
gnomAD v4: 17-44372620-CCT-C
MyVariant Identifiers: chr17:g.42449989_42449990del (hg19) chr17:g.44372621_44372622del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44372621_44372622del , CM000679.2:g.44372621_44372622del GRCh38
NC_000017.10:g.42449989_42449990del , CM000679.1:g.42449989_42449990del GRCh37
NC_000017.9:g.39805515_39805516del NCBI36
NG_008331.1:g.21884_21885del , LRG_479:g.21884_21885del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.3061-199_3061-198del MANE Select ENSP00000262407.5:n.3061-199_3061-198del
ENST00000648408.1:c.2375-199_2375-198del
ENST00000262407.5:c.3061-199_3061-198del ENSP00000262407.5:n.3061-199_3061-198del
ENST00000587295.5:c.254-199_254-198del
ENST00000588098.1:c.38-199_38-198del
NM_000419.3:c.3061-199_3061-198del , LRG_479t1:c.3061-199_3061-198del NP_000410.2:n.3061-199_3061-198del
XM_011524749.1:c.2959-199_2959-198del XP_011523051.1:n.2959-199_2959-198del
XM_011524750.1:c.2944-199_2944-198del XP_011523052.1:n.2944-199_2944-198del
NM_000419.4:c.3061-199_3061-198del NP_000410.2:n.3061-199_3061-198del
NM_000419.5:c.3061-199_3061-198del MANE Select NP_000410.2:n.3061-199_3061-198del
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