Canonical Allele Identifier: CA359684461

Gene: ITGA2

Linked Data

• MyVariant Identifiers: chr5:g.52351445C>T (hg19) ; chr5:g.53055615C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055615C>T , CM000667.2:g.53055615C>T	GRCh38
NC_000005.9:g.52351445C>T , CM000667.1:g.52351445C>T	GRCh37
NC_000005.8:g.52387202C>T	NCBI36
NG_008330.1:g.71290C>T
NG_008330.2:g.71290C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.857C>T MANE Select	ENSP00000296585.5:p.Ser286Leu
ENST00000296585.9:c.857C>T	ENSP00000296585.5:p.Ser286Leu
ENST00000503810.6:c.*201C>T	ENSP00000426489.1:n.*201C>T
ENST00000509814.5:c.857C>T	ENSP00000424397.1:p.Ser286Leu
ENST00000509960.5:c.857C>T	ENSP00000424642.1:p.Ser286Leu
ENST00000510722.1:c.857C>T	ENSP00000422145.1:p.Ser286Leu
ENST00000513685.5:c.*571C>T	ENSP00000422095.1:n.*571C>T
NM_002203.3:c.857C>T	NP_002194.2:p.Ser286Leu
NR_073103.1:n.1000C>T
NR_073104.1:n.1000C>T
NR_073105.1:n.1000C>T
NR_073106.1:n.1000C>T
NR_073107.1:n.879C>T
NM_002203.4:c.857C>T MANE Select	NP_002194.2:p.Ser286Leu
NR_073103.2:n.974C>T
NR_073104.2:n.974C>T
NR_073105.2:n.974C>T
NR_073106.2:n.974C>T
NR_073107.2:n.853C>T