Canonical Allele Identifier: CA915940594

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 996158
• ClinVar RCV Id: RCV001290452
• dbSNP Id: rs2048535976
• ERepo: CA915940594/MONDO:0010119/011 ; CA915940594/MONDO:0100326/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375709del , CM000679.2:g.44375709del	GRCh38
NC_000017.10:g.42453077del , CM000679.1:g.42453077del	GRCh37
NC_000017.9:g.39808603del	NCBI36
NG_008331.1:g.18801del , LRG_479:g.18801del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.2613del MANE Select	ENSP00000262407.5:p.Leu872CysfsTer?
ENST00000648408.1:c.2044del
ENST00000262407.5:c.2613del	ENSP00000262407.5:p.Leu872CysfsTer?
ENST00000587295.5:c.253+128del
ENST00000592462.5:n.1408del
NM_000419.3:c.2613del , LRG_479t1:c.2613del	NP_000410.2:p.Leu872CysfsTer?
XM_011524749.1:c.2613del	XP_011523051.1:p.Leu872CysfsTer?
XM_011524750.1:c.2613del	XP_011523052.1:p.Leu872CysfsTer?
NM_000419.4:c.2613del	NP_000410.2:p.Leu872CysfsTer?
NM_000419.5:c.2613del MANE Select	NP_000410.2:p.Leu872CysfsTer?