Canonical Allele Identifier: CA8603299

Gene: ITGA2B

Linked Data

• ClinVar Variation Id: 323561
• ClinVar RCV Id: RCV000342841 ; RCV002502253
• dbSNP Id: rs373578804
• ExAC: 17:42461666 TG / T
• gnomAD v2: 17-42461666-TG-T
• gnomAD v3: 17-44384298-TG-T
• gnomAD v4: 17-44384298-TG-T
• MyVariant Identifiers: chr17:g.42461667del (hg19) ; chr17:g.44384300del (hg38) ; chr17:g.44384299del (hg38)
• ERepo: CA8603299/MONDO:0010119/011

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44384303del , CM000679.2:g.44384303del	GRCh38
NC_000017.10:g.42461671del , CM000679.1:g.42461671del	GRCh37
NC_000017.9:g.39817197del	NCBI36
NG_008331.1:g.10207del , LRG_479:g.10207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.891+12del MANE Select	ENSP00000262407.5:n.891+12del
ENST00000648408.1:c.322+12del
ENST00000262407.5:c.891+12del	ENSP00000262407.5:n.891+12del
ENST00000589645.5:n.342+12del
ENST00000591990.5:n.436+12del
ENST00000592075.5:n.260+12del
ENST00000592226.5:n.131+12del
ENST00000592253.5:n.399+12del
NM_000419.3:c.891+12del , LRG_479t1:c.891+12del	NP_000410.2:n.891+12del
XM_011524749.1:c.891+12del	XP_011523051.1:n.891+12del
XM_011524750.1:c.891+12del	XP_011523052.1:n.891+12del
NM_000419.4:c.891+12del	NP_000410.2:n.891+12del
NM_000419.5:c.891+12del MANE Select	NP_000410.2:n.891+12del