Canonical Allele Identifier: CA410482531

Gene: ITGB2

Linked Data

• MyVariant Identifiers: chr21:g.46306742A>C (hg19) ; chr21:g.44886827A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886827A>C , CM000683.2:g.44886827A>C	GRCh38
NC_000021.8:g.46306742A>C , CM000683.1:g.46306742A>C	GRCh37
NC_000021.7:g.45131170A>C	NCBI36
NG_007270.2:g.47012T>G , LRG_76:g.47012T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1363T>G
ENST00000302347.10:c.2228T>G	ENSP00000303242.6:p.Leu743Arg
ENST00000652462.1:c.2156T>G MANE Select	ENSP00000498780.1:p.Leu719Arg
ENST00000302347.9:c.2156T>G	ENSP00000303242.5:p.Leu719Arg
ENST00000355153.8:c.2156T>G	ENSP00000347279.4:p.Leu719Arg
ENST00000397850.6:c.2156T>G	ENSP00000380948.2:p.Leu719Arg
ENST00000397852.5:c.2156T>G	ENSP00000380950.1:p.Leu719Arg
ENST00000397854.7:c.1985T>G	ENSP00000380952.3:p.Leu662Arg
ENST00000397857.5:c.2156T>G	ENSP00000380955.1:p.Leu719Arg
ENST00000475170.5:n.1556T>G
ENST00000479202.5:n.515T>G
ENST00000498666.5:n.4212T>G
ENST00000523323.5:c.*1983T>G	ENSP00000427732.1:n.*1983T>G
ENST00000610622.4:c.*847T>G	ENSP00000480700.1:n.*847T>G
NM_000211.4:c.2156T>G	NP_000202.3:p.Leu719Arg
NM_001127491.2:c.2156T>G	NP_001120963.2:p.Leu719Arg
NM_001303238.1:c.1949T>G	NP_001290167.1:p.Leu650Arg
XM_006724001.1:c.1949T>G	XP_006724064.1:p.Leu650Arg
XM_006724001.2:c.1949T>G	XP_006724064.1:p.Leu650Arg
NM_000211.5:c.2156T>G MANE Select	NP_000202.3:p.Leu719Arg
NM_001127491.3:c.2156T>G	NP_001120963.2:p.Leu719Arg
NM_001303238.2:c.1949T>G	NP_001290167.1:p.Leu650Arg