Canonical Allele Identifier: CA359684005

Gene: ITGA2

Linked Data

• gnomAD v4: 5-53055549-A-C
• MyVariant Identifiers: chr5:g.52351379A>C (hg19) ; chr5:g.53055549A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055549A>C , CM000667.2:g.53055549A>C	GRCh38
NC_000005.9:g.52351379A>C , CM000667.1:g.52351379A>C	GRCh37
NC_000005.8:g.52387136A>C	NCBI36
NG_008330.1:g.71224A>C
NG_008330.2:g.71224A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.791A>C MANE Select	ENSP00000296585.5:p.Tyr264Ser
ENST00000296585.9:c.791A>C	ENSP00000296585.5:p.Tyr264Ser
ENST00000503810.6:c.*135A>C	ENSP00000426489.1:n.*135A>C
ENST00000509814.5:c.791A>C	ENSP00000424397.1:p.Tyr264Ser
ENST00000509960.5:c.791A>C	ENSP00000424642.1:p.Tyr264Ser
ENST00000510722.1:c.791A>C	ENSP00000422145.1:p.Tyr264Ser
ENST00000513685.5:c.*505A>C	ENSP00000422095.1:n.*505A>C
NM_002203.3:c.791A>C	NP_002194.2:p.Tyr264Ser
NR_073103.1:n.934A>C
NR_073104.1:n.934A>C
NR_073105.1:n.934A>C
NR_073106.1:n.934A>C
NR_073107.1:n.813A>C
NM_002203.4:c.791A>C MANE Select	NP_002194.2:p.Tyr264Ser
NR_073103.2:n.908A>C
NR_073104.2:n.908A>C
NR_073105.2:n.908A>C
NR_073106.2:n.908A>C
NR_073107.2:n.787A>C