Canonical Allele Identifier: CA118893996

Gene: ITGA2

Linked Data

• dbSNP Id: rs1801106
• gnomAD v2: 5-52358757-G-C
• gnomAD v3: 5-53062927-G-C
• gnomAD v4: 5-53062927-G-C
• MyVariant Identifiers: chr5:g.52358757G>C (hg19) ; chr5:g.53062927G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.53062927G>C , CM000667.2:g.53062927G>C	GRCh38
NC_000005.9:g.52358757G>C , CM000667.1:g.52358757G>C	GRCh37
NC_000005.8:g.52394514G>C	NCBI36
NG_008330.1:g.78602G>C
NG_008330.2:g.78602G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296585.10:c.1600G>C MANE Select	ENSP00000296585.5:p.Glu534Gln
ENST00000296585.9:c.1600G>C	ENSP00000296585.5:p.Glu534Gln
ENST00000503810.6:c.*944G>C	ENSP00000426489.1:n.*944G>C
ENST00000509814.5:c.1600G>C	ENSP00000424397.1:p.Glu534Gln
ENST00000509960.5:c.1600G>C	ENSP00000424642.1:p.Glu534Gln
ENST00000510722.1:c.1600G>C	ENSP00000422145.1:p.Glu534Gln
ENST00000513685.5:c.*1314G>C	ENSP00000422095.1:n.*1314G>C
NM_002203.3:c.1600G>C	NP_002194.2:p.Glu534Gln
NR_073103.1:n.1743G>C
NR_073104.1:n.1743G>C
NR_073105.1:n.1743G>C
NR_073106.1:n.1743G>C
NR_073107.1:n.1622G>C
NM_002203.4:c.1600G>C MANE Select	NP_002194.2:p.Glu534Gln
NR_073103.2:n.1717G>C
NR_073104.2:n.1717G>C
NR_073105.2:n.1717G>C
NR_073106.2:n.1717G>C
NR_073107.2:n.1596G>C