Canonical Allele Identifier: CA983995027
Gene: ITGA2B HGNC NCBI

Linked Data

dbSNP Id: rs2048523512
gnomAD v3: 17-44374672-CGGGGCAGGCTGAGCG-C
gnomAD v4: 17-44374672-CGGGGCAGGCTGAGCG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374679_44374693del , CM000679.2:g.44374679_44374693del GRCh38
NC_000017.10:g.42452047_42452061del , CM000679.1:g.42452047_42452061del GRCh37
NC_000017.9:g.39807573_39807587del NCBI36
NG_008331.1:g.19819_19833del , LRG_479:g.19819_19833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2915_2929del MANE Select ENSP00000262407.5:p.Pro972_Pro976del
ENST00000648408.1:c.2346_2360del
ENST00000262407.5:c.2915_2929del ENSP00000262407.5:p.Pro972_Pro976del
ENST00000587295.5:c.253+1146_253+1160del
ENST00000588098.1:c.9_23del
ENST00000592462.5:n.2426_2440del
NM_000419.3:c.2915_2929del , LRG_479t1:c.2915_2929del NP_000410.2:p.Pro972_Pro976del
XM_011524749.1:c.2842-217_2842-203del XP_011523051.1:n.2842-217_2842-203del
XM_011524750.1:c.2915_2929del XP_011523052.1:p.Pro972_Pro976del
NM_000419.4:c.2915_2929del NP_000410.2:p.Pro972_Pro976del
NM_000419.5:c.2915_2929del MANE Select NP_000410.2:p.Pro972_Pro976del
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