Canonical Allele Identifier: CA1139665645
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 971253
ClinVar RCV Id: RCV001246994
dbSNP Id: rs2048523750
ERepo: CA1139665645/MONDO:0010119/011 CA1139665645/MONDO:0100326/011
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374686_44374687delinsA , CM000679.2:g.44374686_44374687delinsA GRCh38
NC_000017.10:g.42452054_42452055delinsA , CM000679.1:g.42452054_42452055delinsA GRCh37
NC_000017.9:g.39807580_39807581delinsA NCBI36
NG_008331.1:g.19819_19820delinsT , LRG_479:g.19819_19820delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2915_2916delinsT MANE Select ENSP00000262407.5:p.Pro972LeufsTer?
ENST00000648408.1:c.2346_2347delinsT
ENST00000262407.5:c.2915_2916delinsT ENSP00000262407.5:p.Pro972LeufsTer?
ENST00000587295.5:c.253+1146_253+1147delinsT
ENST00000588098.1:c.9_10delinsT
ENST00000592462.5:n.2426_2427delinsT
NM_000419.3:c.2915_2916delinsT , LRG_479t1:c.2915_2916delinsT NP_000410.2:p.Pro972LeufsTer?
XM_011524749.1:c.2842-217_2842-216delinsT XP_011523051.1:n.2842-217_2842-216delinsT
XM_011524750.1:c.2915_2916delinsT XP_011523052.1:p.Pro972LeufsTer?
NM_000419.4:c.2915_2916delinsT NP_000410.2:p.Pro972LeufsTer?
NM_000419.5:c.2915_2916delinsT MANE Select NP_000410.2:p.Pro972LeufsTer?
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