Canonical Allele Identifier: CA410484015

Gene: ITGB2

Linked Data

• MyVariant Identifiers: chr21:g.46309306C>A (hg19) ; chr21:g.44889391C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44889391C>A , CM000683.2:g.44889391C>A	GRCh38
NC_000021.8:g.46309306C>A , CM000683.1:g.46309306C>A	GRCh37
NC_000021.7:g.45133734C>A	NCBI36
NG_007270.2:g.44448G>T , LRG_76:g.44448G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.969G>T
ENST00000302347.10:c.1834G>T	ENSP00000303242.6:p.Val612Phe
ENST00000652462.1:c.1762G>T MANE Select	ENSP00000498780.1:p.Val588Phe
ENST00000302347.9:c.1762G>T	ENSP00000303242.5:p.Val588Phe
ENST00000355153.8:c.1762G>T	ENSP00000347279.4:p.Val588Phe
ENST00000397850.6:c.1762G>T	ENSP00000380948.2:p.Val588Phe
ENST00000397852.5:c.1762G>T	ENSP00000380950.1:p.Val588Phe
ENST00000397854.7:c.1591G>T	ENSP00000380952.3:p.Val531Phe
ENST00000397857.5:c.1762G>T	ENSP00000380955.1:p.Val588Phe
ENST00000475170.5:n.1162G>T
ENST00000498666.5:n.3818G>T
ENST00000523323.5:c.*1589G>T	ENSP00000427732.1:n.*1589G>T
ENST00000610622.4:c.*453G>T	ENSP00000480700.1:n.*453G>T
NM_000211.4:c.1762G>T	NP_000202.3:p.Val588Phe
NM_001127491.2:c.1762G>T	NP_001120963.2:p.Val588Phe
NM_001303238.1:c.1555G>T	NP_001290167.1:p.Val519Phe
XM_006724001.1:c.1555G>T	XP_006724064.1:p.Val519Phe
XM_006724001.2:c.1555G>T	XP_006724064.1:p.Val519Phe
NM_000211.5:c.1762G>T MANE Select	NP_000202.3:p.Val588Phe
NM_001127491.3:c.1762G>T	NP_001120963.2:p.Val588Phe
NM_001303238.2:c.1555G>T	NP_001290167.1:p.Val519Phe