Canonical Allele Identifier: CA410482415

Gene: ITGB2

Linked Data

• MyVariant Identifiers: chr21:g.46306686A>C (hg19) ; chr21:g.44886771A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886771A>C , CM000683.2:g.44886771A>C	GRCh38
NC_000021.8:g.46306686A>C , CM000683.1:g.46306686A>C	GRCh37
NC_000021.7:g.45131114A>C	NCBI36
NG_007270.2:g.47068T>G , LRG_76:g.47068T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1419T>G
ENST00000302347.10:c.2284T>G	ENSP00000303242.6:p.Phe762Val
ENST00000652462.1:c.2212T>G MANE Select	ENSP00000498780.1:p.Phe738Val
ENST00000302347.9:c.2212T>G	ENSP00000303242.5:p.Phe738Val
ENST00000355153.8:c.2212T>G	ENSP00000347279.4:p.Phe738Val
ENST00000397850.6:c.2212T>G	ENSP00000380948.2:p.Phe738Val
ENST00000397852.5:c.2212T>G	ENSP00000380950.1:p.Phe738Val
ENST00000397854.7:c.2041T>G	ENSP00000380952.3:p.Phe681Val
ENST00000397857.5:c.2212T>G	ENSP00000380955.1:p.Phe738Val
ENST00000475170.5:n.1612T>G
ENST00000479202.5:n.571T>G
ENST00000498666.5:n.4268T>G
ENST00000523323.5:c.*2039T>G	ENSP00000427732.1:n.*2039T>G
ENST00000610622.4:c.*903T>G	ENSP00000480700.1:n.*903T>G
NM_000211.4:c.2212T>G	NP_000202.3:p.Phe738Val
NM_001127491.2:c.2212T>G	NP_001120963.2:p.Phe738Val
NM_001303238.1:c.2005T>G	NP_001290167.1:p.Phe669Val
XM_006724001.1:c.2005T>G	XP_006724064.1:p.Phe669Val
XM_006724001.2:c.2005T>G	XP_006724064.1:p.Phe669Val
NM_000211.5:c.2212T>G MANE Select	NP_000202.3:p.Phe738Val
NM_001127491.3:c.2212T>G	NP_001120963.2:p.Phe738Val
NM_001303238.2:c.2005T>G	NP_001290167.1:p.Phe669Val