Canonical Allele Identifier: CA10063258

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 340174
• ClinVar RCV Id: RCV000283277 ; RCV000456084 ; RCV001712128
• dbSNP Id: rs5030668
• ExAC: 21:46326815 C / T
• gnomAD v2: 21-46326815-C-T
• gnomAD v3: 21-44906900-C-T
• gnomAD v4: 21-44906900-C-T
• MyVariant Identifiers: chr21:g.46326815C>T (hg19) ; chr21:g.44906900C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44906900C>T , CM000683.2:g.44906900C>T	GRCh38
NC_000021.8:g.46326815C>T , CM000683.1:g.46326815C>T	GRCh37
NC_000021.7:g.45151243C>T	NCBI36
NG_007270.2:g.26939G>A , LRG_76:g.26939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.328+15G>A	ENSP00000303242.6:n.328+15G>A
ENST00000652462.1:c.328+15G>A MANE Select	ENSP00000498780.1:n.328+15G>A
ENST00000302347.9:c.328+15G>A	ENSP00000303242.5:n.328+15G>A
ENST00000320216.10:c.301+15G>A	ENSP00000317697.6:n.301+15G>A
ENST00000355153.8:c.328+15G>A	ENSP00000347279.4:n.328+15G>A
ENST00000397850.6:c.328+15G>A	ENSP00000380948.2:n.328+15G>A
ENST00000397852.5:c.328+15G>A	ENSP00000380950.1:n.328+15G>A
ENST00000397854.7:c.328+15G>A	ENSP00000380952.3:n.328+15G>A
ENST00000397857.5:c.328+15G>A	ENSP00000380955.1:n.328+15G>A
ENST00000498666.5:n.471+15G>A
ENST00000517563.5:c.328+15G>A	ENSP00000428413.1:n.328+15G>A
ENST00000520389.5:c.*155+15G>A	ENSP00000428434.1:n.*155+15G>A
ENST00000521987.1:n.113-3365G>A
ENST00000522688.5:c.121+15G>A	ENSP00000428125.1:n.121+15G>A
ENST00000522931.5:c.328+15G>A	ENSP00000428979.1:n.328+15G>A
ENST00000523323.5:c.*155+15G>A	ENSP00000427732.1:n.*155+15G>A
ENST00000523663.5:c.328+15G>A	ENSP00000428503.1:n.328+15G>A
ENST00000610622.4:c.328+15G>A	ENSP00000480700.1:n.328+15G>A
NM_000211.4:c.328+15G>A	NP_000202.3:n.328+15G>A
NM_001127491.2:c.328+15G>A	NP_001120963.2:n.328+15G>A
NM_001303238.1:c.121+15G>A	NP_001290167.1:n.121+15G>A
XM_006724001.1:c.121+15G>A	XP_006724064.1:n.121+15G>A
XM_006724001.2:c.121+15G>A	XP_006724064.1:n.121+15G>A
NM_000211.5:c.328+15G>A MANE Select	NP_000202.3:n.328+15G>A
NM_001127491.3:c.328+15G>A	NP_001120963.2:n.328+15G>A
NM_001303238.2:c.121+15G>A	NP_001290167.1:n.121+15G>A