Canonical Allele Identifier: CA915940386

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 953016
• ClinVar RCV Id: RCV001225248
• dbSNP Id: rs2048523431
• ERepo: CA915940386/MONDO:0010119/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374672del , CM000679.2:g.44374672del	GRCh38
NC_000017.10:g.42452040del , CM000679.1:g.42452040del	GRCh37
NC_000017.9:g.39807566del	NCBI36
NG_008331.1:g.19834del , LRG_479:g.19834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2930del MANE Select	ENSP00000262407.5:p.Arg977GlnfsTer?
ENST00000648408.1:c.2361del
ENST00000262407.5:c.2930del	ENSP00000262407.5:p.Arg977GlnfsTer?
ENST00000587295.5:c.253+1161del
ENST00000588098.1:c.24del
ENST00000592462.5:n.2441del
NM_000419.3:c.2930del , LRG_479t1:c.2930del	NP_000410.2:p.Arg977GlnfsTer?
XM_011524749.1:c.2842-202del	XP_011523051.1:n.2842-202del
XM_011524750.1:c.2930del	XP_011523052.1:p.Arg977GlnfsTer?
NM_000419.4:c.2930del	NP_000410.2:p.Arg977GlnfsTer?
NM_000419.5:c.2930del MANE Select	NP_000410.2:p.Arg977GlnfsTer?