Canonical Allele Identifier: CA410482420

Gene: ITGB2

Linked Data

• gnomAD v4: 21-44886774-G-C
• MyVariant Identifiers: chr21:g.46306689G>C (hg19) ; chr21:g.44886774G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886774G>C , CM000683.2:g.44886774G>C	GRCh38
NC_000021.8:g.46306689G>C , CM000683.1:g.46306689G>C	GRCh37
NC_000021.7:g.45131117G>C	NCBI36
NG_007270.2:g.47065C>G , LRG_76:g.47065C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1416C>G
ENST00000302347.10:c.2281C>G	ENSP00000303242.6:p.Arg761Gly
ENST00000652462.1:c.2209C>G MANE Select	ENSP00000498780.1:p.Arg737Gly
ENST00000302347.9:c.2209C>G	ENSP00000303242.5:p.Arg737Gly
ENST00000355153.8:c.2209C>G	ENSP00000347279.4:p.Arg737Gly
ENST00000397850.6:c.2209C>G	ENSP00000380948.2:p.Arg737Gly
ENST00000397852.5:c.2209C>G	ENSP00000380950.1:p.Arg737Gly
ENST00000397854.7:c.2038C>G	ENSP00000380952.3:p.Arg680Gly
ENST00000397857.5:c.2209C>G	ENSP00000380955.1:p.Arg737Gly
ENST00000475170.5:n.1609C>G
ENST00000479202.5:n.568C>G
ENST00000498666.5:n.4265C>G
ENST00000523323.5:c.*2036C>G	ENSP00000427732.1:n.*2036C>G
ENST00000610622.4:c.*900C>G	ENSP00000480700.1:n.*900C>G
NM_000211.4:c.2209C>G	NP_000202.3:p.Arg737Gly
NM_001127491.2:c.2209C>G	NP_001120963.2:p.Arg737Gly
NM_001303238.1:c.2002C>G	NP_001290167.1:p.Arg668Gly
XM_006724001.1:c.2002C>G	XP_006724064.1:p.Arg668Gly
XM_006724001.2:c.2002C>G	XP_006724064.1:p.Arg668Gly
NM_000211.5:c.2209C>G MANE Select	NP_000202.3:p.Arg737Gly
NM_001127491.3:c.2209C>G	NP_001120963.2:p.Arg737Gly
NM_001303238.2:c.2002C>G	NP_001290167.1:p.Arg668Gly