Canonical Allele Identifier: CA359684590

Gene: ITGA2

Linked Data

• dbSNP Id: rs1161801280
• gnomAD v2: 5-52351461-G-T
• gnomAD v4: 5-53055631-G-T
• MyVariant Identifiers: chr5:g.52351461G>T (hg19) ; chr5:g.53055631G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055631G>T , CM000667.2:g.53055631G>T	GRCh38
NC_000005.9:g.52351461G>T , CM000667.1:g.52351461G>T	GRCh37
NC_000005.8:g.52387218G>T	NCBI36
NG_008330.1:g.71306G>T
NG_008330.2:g.71306G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.873G>T MANE Select	ENSP00000296585.5:p.Met291Ile
ENST00000296585.9:c.873G>T	ENSP00000296585.5:p.Met291Ile
ENST00000503810.6:c.*217G>T	ENSP00000426489.1:n.*217G>T
ENST00000509814.5:c.873G>T	ENSP00000424397.1:p.Met291Ile
ENST00000509960.5:c.873G>T	ENSP00000424642.1:p.Met291Ile
ENST00000510722.1:c.873G>T	ENSP00000422145.1:p.Met291Ile
ENST00000513685.5:c.*587G>T	ENSP00000422095.1:n.*587G>T
NM_002203.3:c.873G>T	NP_002194.2:p.Met291Ile
NR_073103.1:n.1016G>T
NR_073104.1:n.1016G>T
NR_073105.1:n.1016G>T
NR_073106.1:n.1016G>T
NR_073107.1:n.895G>T
NM_002203.4:c.873G>T MANE Select	NP_002194.2:p.Met291Ile
NR_073103.2:n.990G>T
NR_073104.2:n.990G>T
NR_073105.2:n.990G>T
NR_073106.2:n.990G>T
NR_073107.2:n.869G>T