Canonical Allele Identifier: CA3262711

Gene: ITGA2

Linked Data

• dbSNP Id: rs764123313
• ExAC: 5:52351343 CTTTA / C
• gnomAD v2: 5-52351343-CTTTA-C
• gnomAD v4: 5-53055513-CTTTA-C
• MyVariant Identifiers: chr5:g.52351344_52351347del (hg19) ; chr5:g.53055514_53055517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53055518_53055521del , CM000667.2:g.53055518_53055521del	GRCh38
NC_000005.9:g.52351348_52351351del , CM000667.1:g.52351348_52351351del	GRCh37
NC_000005.8:g.52387105_52387108del	NCBI36
NG_008330.1:g.71193_71196del
NG_008330.2:g.71193_71196del

Transcript Alleles

HGVS	Amino-acid change
ENST00000296585.10:c.780-20_780-17del MANE Select	ENSP00000296585.5:n.780-20_780-17del
ENST00000296585.9:c.780-20_780-17del	ENSP00000296585.5:n.780-20_780-17del
ENST00000503810.6:c.*124-20_*124-17del	ENSP00000426489.1:n.*124-20_*124-17del
ENST00000509814.5:c.780-20_780-17del	ENSP00000424397.1:n.780-20_780-17del
ENST00000509960.5:c.780-20_780-17del	ENSP00000424642.1:n.780-20_780-17del
ENST00000510722.1:c.780-20_780-17del	ENSP00000422145.1:n.780-20_780-17del
ENST00000513685.5:c.*494-20_*494-17del	ENSP00000422095.1:n.*494-20_*494-17del
NM_002203.3:c.780-20_780-17del	NP_002194.2:n.780-20_780-17del
NR_073103.1:n.923-20_923-17del
NR_073104.1:n.923-20_923-17del
NR_073105.1:n.923-20_923-17del
NR_073106.1:n.923-20_923-17del
NR_073107.1:n.802-20_802-17del
NM_002203.4:c.780-20_780-17del MANE Select	NP_002194.2:n.780-20_780-17del
NR_073103.2:n.897-20_897-17del
NR_073104.2:n.897-20_897-17del
NR_073105.2:n.897-20_897-17del
NR_073106.2:n.897-20_897-17del
NR_073107.2:n.776-20_776-17del