Canonical Allele Identifier: CA444163366

Gene: ITGA2

Linked Data

• dbSNP Id: rs1744591128
• gnomAD v3: 5-53055595-A-G
• gnomAD v4: 5-53055595-A-G
• MyVariant Identifiers: chr5:g.52351425A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055595A>G , CM000667.2:g.53055595A>G	GRCh38
NC_000005.9:g.52351425A>G , CM000667.1:g.52351425A>G	GRCh37
NC_000005.8:g.52387182A>G	NCBI36
NG_008330.1:g.71270A>G
NG_008330.2:g.71270A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.837A>G MANE Select	ENSP00000296585.5:p.Val279=
ENST00000296585.9:c.837A>G	ENSP00000296585.5:p.Val279=
ENST00000503810.6:c.*181A>G	ENSP00000426489.1:n.*181A>G
ENST00000509814.5:c.837A>G	ENSP00000424397.1:p.Val279=
ENST00000509960.5:c.837A>G	ENSP00000424642.1:p.Val279=
ENST00000510722.1:c.837A>G	ENSP00000422145.1:p.Val279=
ENST00000513685.5:c.*551A>G	ENSP00000422095.1:n.*551A>G
NM_002203.3:c.837A>G	NP_002194.2:p.Val279=
NR_073103.1:n.980A>G
NR_073104.1:n.980A>G
NR_073105.1:n.980A>G
NR_073106.1:n.980A>G
NR_073107.1:n.859A>G
NM_002203.4:c.837A>G MANE Select	NP_002194.2:p.Val279=
NR_073103.2:n.954A>G
NR_073104.2:n.954A>G
NR_073105.2:n.954A>G
NR_073106.2:n.954A>G
NR_073107.2:n.833A>G