Canonical Allele Identifier: CA359684274

Gene: ITGA2

Linked Data

• dbSNP Id: rs1213843149
• gnomAD v2: 5-52351423-G-T
• gnomAD v3: 5-53055593-G-T
• gnomAD v4: 5-53055593-G-T
• MyVariant Identifiers: chr5:g.52351423G>T (hg19) ; chr5:g.53055593G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055593G>T , CM000667.2:g.53055593G>T	GRCh38
NC_000005.9:g.52351423G>T , CM000667.1:g.52351423G>T	GRCh37
NC_000005.8:g.52387180G>T	NCBI36
NG_008330.1:g.71268G>T
NG_008330.2:g.71268G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.835G>T MANE Select	ENSP00000296585.5:p.Val279Leu
ENST00000296585.9:c.835G>T	ENSP00000296585.5:p.Val279Leu
ENST00000503810.6:c.*179G>T	ENSP00000426489.1:n.*179G>T
ENST00000509814.5:c.835G>T	ENSP00000424397.1:p.Val279Leu
ENST00000509960.5:c.835G>T	ENSP00000424642.1:p.Val279Leu
ENST00000510722.1:c.835G>T	ENSP00000422145.1:p.Val279Leu
ENST00000513685.5:c.*549G>T	ENSP00000422095.1:n.*549G>T
NM_002203.3:c.835G>T	NP_002194.2:p.Val279Leu
NR_073103.1:n.978G>T
NR_073104.1:n.978G>T
NR_073105.1:n.978G>T
NR_073106.1:n.978G>T
NR_073107.1:n.857G>T
NM_002203.4:c.835G>T MANE Select	NP_002194.2:p.Val279Leu
NR_073103.2:n.952G>T
NR_073104.2:n.952G>T
NR_073105.2:n.952G>T
NR_073106.2:n.952G>T
NR_073107.2:n.831G>T