Canonical Allele Identifier: CA10062911

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 530690
• ClinVar RCV Id: RCV000636669
• dbSNP Id: rs141201564
• ExAC: 21:46313371 G / A
• gnomAD v2: 21-46313371-G-A
• gnomAD v3: 21-44893456-G-A
• gnomAD v4: 21-44893456-G-A
• MyVariant Identifiers: chr21:g.46313371G>A (hg19) ; chr21:g.44893456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44893456G>A , CM000683.2:g.44893456G>A	GRCh38
NC_000021.8:g.46313371G>A , CM000683.1:g.46313371G>A	GRCh37
NC_000021.7:g.45137799G>A	NCBI36
NG_007270.2:g.40383C>T , LRG_76:g.40383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1244C>T	ENSP00000303242.6:p.Thr415Met
ENST00000652462.1:c.1172C>T MANE Select	ENSP00000498780.1:p.Thr391Met
ENST00000302347.9:c.1172C>T	ENSP00000303242.5:p.Thr391Met
ENST00000355153.8:c.1172C>T	ENSP00000347279.4:p.Thr391Met
ENST00000397850.6:c.1172C>T	ENSP00000380948.2:p.Thr391Met
ENST00000397852.5:c.1172C>T	ENSP00000380950.1:p.Thr391Met
ENST00000397854.7:c.1001C>T	ENSP00000380952.3:p.Thr334Met
ENST00000397857.5:c.1172C>T	ENSP00000380955.1:p.Thr391Met
ENST00000475170.5:n.572C>T
ENST00000498666.5:n.2741C>T
ENST00000523323.5:c.*999C>T	ENSP00000427732.1:n.*999C>T
ENST00000610622.4:c.1001C>T	ENSP00000480700.1:p.Thr334Met
NM_000211.4:c.1172C>T	NP_000202.3:p.Thr391Met
NM_001127491.2:c.1172C>T	NP_001120963.2:p.Thr391Met
NM_001303238.1:c.965C>T	NP_001290167.1:p.Thr322Met
XM_006724001.1:c.965C>T	XP_006724064.1:p.Thr322Met
XM_006724001.2:c.965C>T	XP_006724064.1:p.Thr322Met
NM_000211.5:c.1172C>T MANE Select	NP_000202.3:p.Thr391Met
NM_001127491.3:c.1172C>T	NP_001120963.2:p.Thr391Met
NM_001303238.2:c.965C>T	NP_001290167.1:p.Thr322Met