Canonical Allele Identifier: CA626224461

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1331036560
• gnomAD v2: 17-42451956-TCTGGCTGGGCA-T
• gnomAD v3: 17-44374588-TCTGGCTGGGCA-T
• gnomAD v4: 17-44374588-TCTGGCTGGGCA-T
• MyVariant Identifiers: chr17:g.42451957_42451967del (hg19) ; chr17:g.44374589_44374599del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374592_44374602del , CM000679.2:g.44374592_44374602del	GRCh38
NC_000017.10:g.42451960_42451970del , CM000679.1:g.42451960_42451970del	GRCh37
NC_000017.9:g.39807486_39807496del	NCBI36
NG_008331.1:g.19907_19917del , LRG_479:g.19907_19917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2943+60_2943+70del MANE Select	ENSP00000262407.5:n.2943+60_2943+70del
ENST00000648408.1:c.2374+60_2374+70del
ENST00000262407.5:c.2943+60_2943+70del	ENSP00000262407.5:n.2943+60_2943+70del
ENST00000587295.5:c.253+1234_253+1244del
ENST00000588098.1:c.37+60_37+70del
ENST00000592462.5:n.2514_2524del
NM_000419.3:c.2943+60_2943+70del , LRG_479t1:c.2943+60_2943+70del	NP_000410.2:n.2943+60_2943+70del
XM_011524749.1:c.2842-129_2842-119del	XP_011523051.1:n.2842-129_2842-119del
XM_011524750.1:c.2943+60_2943+70del	XP_011523052.1:n.2943+60_2943+70del
NM_000419.4:c.2943+60_2943+70del	NP_000410.2:n.2943+60_2943+70del
NM_000419.5:c.2943+60_2943+70del MANE Select	NP_000410.2:n.2943+60_2943+70del