Canonical Allele Identifier: CA410484156

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 953989
• ClinVar RCV Id: RCV001226365
• dbSNP Id: rs965990834
• MyVariant Identifiers: chr21:g.46309374T>A (hg19) ; chr21:g.44889459T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44889459T>A , CM000683.2:g.44889459T>A	GRCh38
NC_000021.8:g.46309374T>A , CM000683.1:g.46309374T>A	GRCh37
NC_000021.7:g.45133802T>A	NCBI36
NG_007270.2:g.44380A>T , LRG_76:g.44380A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.901A>T
ENST00000302347.10:c.1766A>T	ENSP00000303242.6:p.His589Leu
ENST00000652462.1:c.1694A>T MANE Select	ENSP00000498780.1:p.His565Leu
ENST00000302347.9:c.1694A>T	ENSP00000303242.5:p.His565Leu
ENST00000355153.8:c.1694A>T	ENSP00000347279.4:p.His565Leu
ENST00000397850.6:c.1694A>T	ENSP00000380948.2:p.His565Leu
ENST00000397852.5:c.1694A>T	ENSP00000380950.1:p.His565Leu
ENST00000397854.7:c.1523A>T	ENSP00000380952.3:p.His508Leu
ENST00000397857.5:c.1694A>T	ENSP00000380955.1:p.His565Leu
ENST00000475170.5:n.1094A>T
ENST00000498666.5:n.3750A>T
ENST00000523323.5:c.*1521A>T	ENSP00000427732.1:n.*1521A>T
ENST00000610622.4:c.*385A>T	ENSP00000480700.1:n.*385A>T
NM_000211.4:c.1694A>T	NP_000202.3:p.His565Leu
NM_001127491.2:c.1694A>T	NP_001120963.2:p.His565Leu
NM_001303238.1:c.1487A>T	NP_001290167.1:p.His496Leu
XM_006724001.1:c.1487A>T	XP_006724064.1:p.His496Leu
XM_006724001.2:c.1487A>T	XP_006724064.1:p.His496Leu
NM_000211.5:c.1694A>T MANE Select	NP_000202.3:p.His565Leu
NM_001127491.3:c.1694A>T	NP_001120963.2:p.His565Leu
NM_001303238.2:c.1487A>T	NP_001290167.1:p.His496Leu