Canonical Allele Identifier: CA118889229

Gene: ITGA2

Linked Data

• dbSNP Id: rs906327966
• gnomAD v2: 5-52351422-G-A
• gnomAD v3: 5-53055592-G-A
• gnomAD v4: 5-53055592-G-A
• MyVariant Identifiers: chr5:g.52351422G>A (hg19) ; chr5:g.53055592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055592G>A , CM000667.2:g.53055592G>A	GRCh38
NC_000005.9:g.52351422G>A , CM000667.1:g.52351422G>A	GRCh37
NC_000005.8:g.52387179G>A	NCBI36
NG_008330.1:g.71267G>A
NG_008330.2:g.71267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.834G>A MANE Select	ENSP00000296585.5:p.Met278Ile
ENST00000296585.9:c.834G>A	ENSP00000296585.5:p.Met278Ile
ENST00000503810.6:c.*178G>A	ENSP00000426489.1:n.*178G>A
ENST00000509814.5:c.834G>A	ENSP00000424397.1:p.Met278Ile
ENST00000509960.5:c.834G>A	ENSP00000424642.1:p.Met278Ile
ENST00000510722.1:c.834G>A	ENSP00000422145.1:p.Met278Ile
ENST00000513685.5:c.*548G>A	ENSP00000422095.1:n.*548G>A
NM_002203.3:c.834G>A	NP_002194.2:p.Met278Ile
NR_073103.1:n.977G>A
NR_073104.1:n.977G>A
NR_073105.1:n.977G>A
NR_073106.1:n.977G>A
NR_073107.1:n.856G>A
NM_002203.4:c.834G>A MANE Select	NP_002194.2:p.Met278Ile
NR_073103.2:n.951G>A
NR_073104.2:n.951G>A
NR_073105.2:n.951G>A
NR_073106.2:n.951G>A
NR_073107.2:n.830G>A