Canonical Allele Identifier: CA559309554

Gene: ITGA2

Linked Data

• dbSNP Id: rs1370550040
• gnomAD v2: 5-52351264-TTG-T
• gnomAD v3: 5-53055434-TTG-T
• gnomAD v4: 5-53055434-TTG-T
• MyVariant Identifiers: chr5:g.52351265_52351266del (hg19) ; chr5:g.53055435_53055436del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055438_53055439del , CM000667.2:g.53055438_53055439del	GRCh38
NC_000005.9:g.52351268_52351269del , CM000667.1:g.52351268_52351269del	GRCh37
NC_000005.8:g.52387025_52387026del	NCBI36
NG_008330.1:g.71113_71114del
NG_008330.2:g.71113_71114del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296585.10:c.780-100_780-99del MANE Select	ENSP00000296585.5:n.780-100_780-99del
ENST00000296585.9:c.780-100_780-99del	ENSP00000296585.5:n.780-100_780-99del
ENST00000503810.6:c.*124-100_*124-99del	ENSP00000426489.1:n.*124-100_*124-99del
ENST00000509814.5:c.780-100_780-99del	ENSP00000424397.1:n.780-100_780-99del
ENST00000509960.5:c.780-100_780-99del	ENSP00000424642.1:n.780-100_780-99del
ENST00000510722.1:c.780-100_780-99del	ENSP00000422145.1:n.780-100_780-99del
ENST00000513685.5:c.*494-100_*494-99del	ENSP00000422095.1:n.*494-100_*494-99del
NM_002203.3:c.780-100_780-99del	NP_002194.2:n.780-100_780-99del
NR_073103.1:n.923-100_923-99del
NR_073104.1:n.923-100_923-99del
NR_073105.1:n.923-100_923-99del
NR_073106.1:n.923-100_923-99del
NR_073107.1:n.802-100_802-99del
NM_002203.4:c.780-100_780-99del MANE Select	NP_002194.2:n.780-100_780-99del
NR_073103.2:n.897-100_897-99del
NR_073104.2:n.897-100_897-99del
NR_073105.2:n.897-100_897-99del
NR_073106.2:n.897-100_897-99del
NR_073107.2:n.776-100_776-99del