Canonical Allele Identifier: CA3262735

Gene: ITGA2

Linked Data

• dbSNP Id: rs768316197
• ExAC: 5:52351517 C / G
• gnomAD v2: 5-52351517-C-G
• gnomAD v3: 5-53055687-C-G
• gnomAD v4: 5-53055687-C-G
• MyVariant Identifiers: chr5:g.52351517C>G (hg19) ; chr5:g.53055687C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055687C>G , CM000667.2:g.53055687C>G	GRCh38
NC_000005.9:g.52351517C>G , CM000667.1:g.52351517C>G	GRCh37
NC_000005.8:g.52387274C>G	NCBI36
NG_008330.1:g.71362C>G
NG_008330.2:g.71362C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.929C>G MANE Select	ENSP00000296585.5:p.Ala310Gly
ENST00000296585.9:c.929C>G	ENSP00000296585.5:p.Ala310Gly
ENST00000503810.6:c.*273C>G	ENSP00000426489.1:n.*273C>G
ENST00000509814.5:c.929C>G	ENSP00000424397.1:p.Ala310Gly
ENST00000509960.5:c.929C>G	ENSP00000424642.1:p.Ala310Gly
ENST00000510722.1:c.929C>G	ENSP00000422145.1:p.Ala310Gly
ENST00000513685.5:c.*643C>G	ENSP00000422095.1:n.*643C>G
NM_002203.3:c.929C>G	NP_002194.2:p.Ala310Gly
NR_073103.1:n.1072C>G
NR_073104.1:n.1072C>G
NR_073105.1:n.1072C>G
NR_073106.1:n.1072C>G
NR_073107.1:n.951C>G
NM_002203.4:c.929C>G MANE Select	NP_002194.2:p.Ala310Gly
NR_073103.2:n.1046C>G
NR_073104.2:n.1046C>G
NR_073105.2:n.1046C>G
NR_073106.2:n.1046C>G
NR_073107.2:n.925C>G