Canonical Allele Identifier: CA249778

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 100760
• ClinVar RCV Id: RCV000087124 ; RCV000455424 ; RCV001711269
• dbSNP Id: rs5030670
• ExAC: 21:46320403 C / T
• gnomAD v2: 21-46320403-C-T
• gnomAD v3: 21-44900488-C-T
• gnomAD v4: 21-44900488-C-T
• MyVariant Identifiers: chr21:g.46320403C>T (hg19) ; chr21:g.44900488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44900488C>T , CM000683.2:g.44900488C>T	GRCh38
NC_000021.8:g.46320403C>T , CM000683.1:g.46320403C>T	GRCh37
NC_000021.7:g.45144831C>T	NCBI36
NG_007270.2:g.33351G>A , LRG_76:g.33351G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.742-13G>A	ENSP00000303242.6:n.742-13G>A
ENST00000652462.1:c.742-13G>A MANE Select	ENSP00000498780.1:n.742-13G>A
ENST00000302347.9:c.742-13G>A	ENSP00000303242.5:n.742-13G>A
ENST00000320216.10:c.715-13G>A	ENSP00000317697.6:n.715-13G>A
ENST00000355153.8:c.742-13G>A	ENSP00000347279.4:n.742-13G>A
ENST00000397850.6:c.742-13G>A	ENSP00000380948.2:n.742-13G>A
ENST00000397852.5:c.742-13G>A	ENSP00000380950.1:n.742-13G>A
ENST00000397854.7:c.571-13G>A	ENSP00000380952.3:n.571-13G>A
ENST00000397857.5:c.742-13G>A	ENSP00000380955.1:n.742-13G>A
ENST00000498666.5:n.885-13G>A
ENST00000523323.5:c.*569-13G>A	ENSP00000427732.1:n.*569-13G>A
ENST00000610622.4:c.571-13G>A	ENSP00000480700.1:n.571-13G>A
NM_000211.4:c.742-13G>A	NP_000202.3:n.742-13G>A
NM_001127491.2:c.742-13G>A	NP_001120963.2:n.742-13G>A
NM_001303238.1:c.535-13G>A	NP_001290167.1:n.535-13G>A
XM_006724001.1:c.535-13G>A	XP_006724064.1:n.535-13G>A
XM_006724001.2:c.535-13G>A	XP_006724064.1:n.535-13G>A
NM_000211.5:c.742-13G>A MANE Select	NP_000202.3:n.742-13G>A
NM_001127491.3:c.742-13G>A	NP_001120963.2:n.742-13G>A
NM_001303238.2:c.535-13G>A	NP_001290167.1:n.535-13G>A