Canonical Allele Identifier: CA915940332

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 1691485
• ClinVar RCV Id: RCV002254820
• dbSNP Id: rs2143429292
• gnomAD v4: 17-44374699-TA-T
• ERepo: CA915940332/MONDO:0100326/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374700del , CM000679.2:g.44374700del	GRCh38
NC_000017.10:g.42452068del , CM000679.1:g.42452068del	GRCh37
NC_000017.9:g.39807594del	NCBI36
NG_008331.1:g.19806del , LRG_479:g.19806del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2902del MANE Select	ENSP00000262407.5:p.Tyr968MetfsTer?
ENST00000648408.1:c.2333del
ENST00000262407.5:c.2902del	ENSP00000262407.5:p.Tyr968MetfsTer?
ENST00000587295.5:c.253+1133del
ENST00000592462.5:n.2413del
NM_000419.3:c.2902del , LRG_479t1:c.2902del	NP_000410.2:p.Tyr968MetfsTer?
XM_011524749.1:c.2842-230del	XP_011523051.1:n.2842-230del
XM_011524750.1:c.2902del	XP_011523052.1:p.Tyr968MetfsTer?
NM_000419.4:c.2902del	NP_000410.2:p.Tyr968MetfsTer?
NM_000419.5:c.2902del MANE Select	NP_000410.2:p.Tyr968MetfsTer?