Canonical Allele Identifier: CA219185

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 68215
• ClinVar RCV Id: RCV000059049 ; RCV000087118
• dbSNP Id: rs137852615
• MyVariant Identifiers: chr21:g.46323397C>A (hg19) ; chr21:g.44903482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44903482C>A , CM000683.2:g.44903482C>A	GRCh38
NC_000021.8:g.46323397C>A , CM000683.1:g.46323397C>A	GRCh37
NC_000021.7:g.45147825C>A	NCBI36
NG_007270.2:g.30357G>T , LRG_76:g.30357G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302347.10:c.382G>T	ENSP00000303242.6:p.Asp128Tyr
ENST00000652462.1:c.382G>T MANE Select	ENSP00000498780.1:p.Asp128Tyr
ENST00000302347.9:c.382G>T	ENSP00000303242.5:p.Asp128Tyr
ENST00000320216.10:c.355G>T	ENSP00000317697.6:p.Asp119Tyr
ENST00000355153.8:c.382G>T	ENSP00000347279.4:p.Asp128Tyr
ENST00000397850.6:c.382G>T	ENSP00000380948.2:p.Asp128Tyr
ENST00000397852.5:c.382G>T	ENSP00000380950.1:p.Asp128Tyr
ENST00000397854.7:c.329-1749G>T	ENSP00000380952.3:n.329-1749G>T
ENST00000397857.5:c.382G>T	ENSP00000380955.1:p.Asp128Tyr
ENST00000498666.5:n.525G>T
ENST00000521987.1:n.166G>T
ENST00000522931.5:c.382G>T	ENSP00000428979.1:p.Asp128Tyr
ENST00000523323.5:c.*209G>T	ENSP00000427732.1:n.*209G>T
ENST00000523663.5:c.382G>T	ENSP00000428503.1:p.Asp128Tyr
ENST00000610622.4:c.329-1749G>T	ENSP00000480700.1:n.329-1749G>T
NM_000211.4:c.382G>T	NP_000202.3:p.Asp128Tyr
NM_001127491.2:c.382G>T	NP_001120963.2:p.Asp128Tyr
NM_001303238.1:c.175G>T	NP_001290167.1:p.Asp59Tyr
XM_006724001.1:c.175G>T	XP_006724064.1:p.Asp59Tyr
XM_006724001.2:c.175G>T	XP_006724064.1:p.Asp59Tyr
NM_000211.5:c.382G>T MANE Select	NP_000202.3:p.Asp128Tyr
NM_001127491.3:c.382G>T	NP_001120963.2:p.Asp128Tyr
NM_001303238.2:c.175G>T	NP_001290167.1:p.Asp59Tyr