Canonical Allele Identifier: CA3262698

Gene: ITGA2

Linked Data

• ClinVar Variation Id: 353741
• ClinVar RCV Id: RCV000264523
• dbSNP Id: rs1126643
• ExAC: 5:52347369 C / T
• gnomAD v2: 5-52347369-C-T
• gnomAD v3: 5-53051539-C-T
• gnomAD v4: 5-53051539-C-T
• MyVariant Identifiers: chr5:g.52347369C>T (hg19) ; chr5:g.53051539C>T (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)
• PubMed: PMID:9950439

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53051539C>T , CM000667.2:g.53051539C>T	GRCh38
NC_000005.9:g.52347369C>T , CM000667.1:g.52347369C>T	GRCh37
NC_000005.8:g.52383126C>T	NCBI36
NG_008330.1:g.67214C>T
NG_008330.2:g.67214C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296585.10:c.759C>T MANE Select	ENSP00000296585.5:p.Phe253=
ENST00000296585.9:c.759C>T	ENSP00000296585.5:p.Phe253=
ENST00000503810.6:c.*103C>T	ENSP00000426489.1:n.*103C>T
ENST00000509814.5:c.759C>T	ENSP00000424397.1:p.Phe253=
ENST00000509960.5:c.759C>T	ENSP00000424642.1:p.Phe253=
ENST00000510722.1:c.759C>T	ENSP00000422145.1:p.Phe253=
ENST00000513685.5:c.*473C>T	ENSP00000422095.1:n.*473C>T
NM_002203.3:c.759C>T	NP_002194.2:p.Phe253=
NR_073103.1:n.902C>T
NR_073104.1:n.902C>T
NR_073105.1:n.902C>T
NR_073106.1:n.902C>T
NR_073107.1:n.781C>T
NM_002203.4:c.759C>T MANE Select	NP_002194.2:p.Phe253=
NR_073103.2:n.876C>T
NR_073104.2:n.876C>T
NR_073105.2:n.876C>T
NR_073106.2:n.876C>T
NR_073107.2:n.755C>T