Canonical Allele Identifier: CA8602567

Gene: ITGA2B

Linked Data

• dbSNP Id: rs753923342
• ExAC: 17:42452320 TCCCCGCCCAGAAGGCCCGG / T
• gnomAD v2: 17-42452320-TCCCCGCCCAGAAGGCCCGG-T
• gnomAD v3: 17-44374952-TCCCCGCCCAGAAGGCCCGG-T
• gnomAD v4: 17-44374952-TCCCCGCCCAGAAGGCCCGG-T
• MyVariant Identifiers: chr17:g.42452321_42452339del (hg19) ; chr17:g.44374953_44374971del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374961_44374979del , CM000679.2:g.44374961_44374979del	GRCh38
NC_000017.10:g.42452329_42452347del , CM000679.1:g.42452329_42452347del	GRCh37
NC_000017.9:g.39807855_39807873del	NCBI36
NG_008331.1:g.19535_19553del , LRG_479:g.19535_19553del

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.2841+27_2841+45del MANE Select	ENSP00000262407.5:n.2841+27_2841+45del
ENST00000648408.1:c.2272+27_2272+45del
ENST00000262407.5:c.2841+27_2841+45del	ENSP00000262407.5:n.2841+27_2841+45del
ENST00000587295.5:c.253+862_253+880del
ENST00000592462.5:n.2142_2160del
NM_000419.3:c.2841+27_2841+45del , LRG_479t1:c.2841+27_2841+45del	NP_000410.2:n.2841+27_2841+45del
XM_011524749.1:c.2841+27_2841+45del	XP_011523051.1:n.2841+27_2841+45del
XM_011524750.1:c.2841+27_2841+45del	XP_011523052.1:n.2841+27_2841+45del
NM_000419.4:c.2841+27_2841+45del	NP_000410.2:n.2841+27_2841+45del
NM_000419.5:c.2841+27_2841+45del MANE Select	NP_000410.2:n.2841+27_2841+45del