Canonical Allele Identifier: CA359684755

Gene: ITGA2

Linked Data

• gnomAD v4: 5-53055657-A-G
• MyVariant Identifiers: chr5:g.52351487A>G (hg19) ; chr5:g.53055657A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055657A>G , CM000667.2:g.53055657A>G	GRCh38
NC_000005.9:g.52351487A>G , CM000667.1:g.52351487A>G	GRCh37
NC_000005.8:g.52387244A>G	NCBI36
NG_008330.1:g.71332A>G
NG_008330.2:g.71332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.899A>G MANE Select	ENSP00000296585.5:p.Asn300Ser
ENST00000296585.9:c.899A>G	ENSP00000296585.5:p.Asn300Ser
ENST00000503810.6:c.*243A>G	ENSP00000426489.1:n.*243A>G
ENST00000509814.5:c.899A>G	ENSP00000424397.1:p.Asn300Ser
ENST00000509960.5:c.899A>G	ENSP00000424642.1:p.Asn300Ser
ENST00000510722.1:c.899A>G	ENSP00000422145.1:p.Asn300Ser
ENST00000513685.5:c.*613A>G	ENSP00000422095.1:n.*613A>G
NM_002203.3:c.899A>G	NP_002194.2:p.Asn300Ser
NR_073103.1:n.1042A>G
NR_073104.1:n.1042A>G
NR_073105.1:n.1042A>G
NR_073106.1:n.1042A>G
NR_073107.1:n.921A>G
NM_002203.4:c.899A>G MANE Select	NP_002194.2:p.Asn300Ser
NR_073103.2:n.1016A>G
NR_073104.2:n.1016A>G
NR_073105.2:n.1016A>G
NR_073106.2:n.1016A>G
NR_073107.2:n.895A>G