Canonical Allele Identifier: CA3262736

Gene: ITGA2

Linked Data

• dbSNP Id: rs774264283
• ExAC: 5:52351526 G / T
• gnomAD v2: 5-52351526-G-T
• gnomAD v4: 5-53055696-G-T
• MyVariant Identifiers: chr5:g.52351526G>T (hg19) ; chr5:g.53055696G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055696G>T , CM000667.2:g.53055696G>T	GRCh38
NC_000005.9:g.52351526G>T , CM000667.1:g.52351526G>T	GRCh37
NC_000005.8:g.52387283G>T	NCBI36
NG_008330.1:g.71371G>T
NG_008330.2:g.71371G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.930+8G>T MANE Select	ENSP00000296585.5:n.930+8G>T
ENST00000296585.9:c.930+8G>T	ENSP00000296585.5:n.930+8G>T
ENST00000503810.6:c.*274+8G>T	ENSP00000426489.1:n.*274+8G>T
ENST00000509814.5:c.930+8G>T	ENSP00000424397.1:n.930+8G>T
ENST00000509960.5:c.930+8G>T	ENSP00000424642.1:n.930+8G>T
ENST00000510722.1:c.930+8G>T	ENSP00000422145.1:n.930+8G>T
ENST00000513685.5:c.*644+8G>T	ENSP00000422095.1:n.*644+8G>T
NM_002203.3:c.930+8G>T	NP_002194.2:n.930+8G>T
NR_073103.1:n.1073+8G>T
NR_073104.1:n.1073+8G>T
NR_073105.1:n.1073+8G>T
NR_073106.1:n.1073+8G>T
NR_073107.1:n.952+8G>T
NM_002203.4:c.930+8G>T MANE Select	NP_002194.2:n.930+8G>T
NR_073103.2:n.1047+8G>T
NR_073104.2:n.1047+8G>T
NR_073105.2:n.1047+8G>T
NR_073106.2:n.1047+8G>T
NR_073107.2:n.926+8G>T