Canonical Allele Identifier: CA120465

Gene: ITGB2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000211.5:c.382G>A MANE Select	NP_000202.3:p.Asp128Asn
ENST00000652462.1:c.382G>A MANE Select	ENSP00000498780.1:p.Asp128Asn
NM_000211.4:c.382G>A	NP_000202.3:p.Asp128Asn
NM_001127491.2:c.382G>A	NP_001120963.2:p.Asp128Asn
NM_001127491.3:c.382G>A	NP_001120963.2:p.Asp128Asn
NM_001303238.1:c.175G>A	NP_001290167.1:p.Asp59Asn
NM_001303238.2:c.175G>A	NP_001290167.1:p.Asp59Asn
ENST00000302347.10:c.382G>A	ENSP00000303242.6:p.Asp128Asn
ENST00000302347.9:c.382G>A	ENSP00000303242.5:p.Asp128Asn
ENST00000320216.10:c.355G>A	ENSP00000317697.6:p.Asp119Asn
ENST00000355153.8:c.382G>A	ENSP00000347279.4:p.Asp128Asn
ENST00000397850.6:c.382G>A	ENSP00000380948.2:p.Asp128Asn
ENST00000397852.5:c.382G>A	ENSP00000380950.1:p.Asp128Asn
ENST00000397854.7:c.329-1749G>A	ENSP00000380952.3:n.329-1749G>A
ENST00000397857.5:c.382G>A	ENSP00000380955.1:p.Asp128Asn
ENST00000498666.5:n.525G>A
ENST00000521987.1:n.166G>A
ENST00000522931.5:c.382G>A	ENSP00000428979.1:p.Asp128Asn
ENST00000523323.5:c.*209G>A	ENSP00000427732.1:n.*209G>A
ENST00000523663.5:c.382G>A	ENSP00000428503.1:p.Asp128Asn
ENST00000610622.4:c.329-1749G>A	ENSP00000480700.1:n.329-1749G>A
XM_006724001.1:c.175G>A	XP_006724064.1:p.Asp59Asn
XM_006724001.2:c.175G>A	XP_006724064.1:p.Asp59Asn