Canonical Allele Identifier: CA915940798
Gene: ITGA2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374749_44374750del , CM000679.2:g.44374749_44374750del GRCh38
NC_000017.10:g.42452117_42452118del , CM000679.1:g.42452117_42452118del GRCh37
NC_000017.9:g.39807643_39807644del NCBI36
NG_008331.1:g.19756_19757del , LRG_479:g.19756_19757del

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2852_2853del MANE Select ENSP00000262407.5:p.Asp951AlafsTer?
ENST00000648408.1:c.2283_2284del
ENST00000262407.5:c.2852_2853del ENSP00000262407.5:p.Asp951AlafsTer?
ENST00000587295.5:c.253+1083_253+1084del
ENST00000592462.5:n.2363_2364del
NM_000419.3:c.2852_2853del , LRG_479t1:c.2852_2853del NP_000410.2:p.Asp951AlafsTer?
XM_011524749.1:c.2841+248_2841+249del XP_011523051.1:n.2841+248_2841+249del
XM_011524750.1:c.2852_2853del XP_011523052.1:p.Asp951AlafsTer?
NM_000419.4:c.2852_2853del NP_000410.2:p.Asp951AlafsTer?
NM_000419.5:c.2852_2853del MANE Select NP_000410.2:p.Asp951AlafsTer?