Canonical Allele Identifier: CA410483780

Gene: ITGB2

Linked Data

• gnomAD v4: 21-44889279-T-C
• MyVariant Identifiers: chr21:g.46309194T>C (hg19) ; chr21:g.44889279T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44889279T>C , CM000683.2:g.44889279T>C	GRCh38
NC_000021.8:g.46309194T>C , CM000683.1:g.46309194T>C	GRCh37
NC_000021.7:g.45133622T>C	NCBI36
NG_007270.2:g.44560A>G , LRG_76:g.44560A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696946.1:n.1081A>G
ENST00000302347.10:c.1946A>G	ENSP00000303242.6:p.Tyr649Cys
ENST00000652462.1:c.1874A>G MANE Select	ENSP00000498780.1:p.Tyr625Cys
ENST00000302347.9:c.1874A>G	ENSP00000303242.5:p.Tyr625Cys
ENST00000355153.8:c.1874A>G	ENSP00000347279.4:p.Tyr625Cys
ENST00000397850.6:c.1874A>G	ENSP00000380948.2:p.Tyr625Cys
ENST00000397852.5:c.1874A>G	ENSP00000380950.1:p.Tyr625Cys
ENST00000397854.7:c.1703A>G	ENSP00000380952.3:p.Tyr568Cys
ENST00000397857.5:c.1874A>G	ENSP00000380955.1:p.Tyr625Cys
ENST00000475170.5:n.1274A>G
ENST00000498666.5:n.3930A>G
ENST00000523323.5:c.*1701A>G	ENSP00000427732.1:n.*1701A>G
ENST00000610622.4:c.*565A>G	ENSP00000480700.1:n.*565A>G
NM_000211.4:c.1874A>G	NP_000202.3:p.Tyr625Cys
NM_001127491.2:c.1874A>G	NP_001120963.2:p.Tyr625Cys
NM_001303238.1:c.1667A>G	NP_001290167.1:p.Tyr556Cys
XM_006724001.1:c.1667A>G	XP_006724064.1:p.Tyr556Cys
XM_006724001.2:c.1667A>G	XP_006724064.1:p.Tyr556Cys
NM_000211.5:c.1874A>G MANE Select	NP_000202.3:p.Tyr625Cys
NM_001127491.3:c.1874A>G	NP_001120963.2:p.Tyr625Cys
NM_001303238.2:c.1667A>G	NP_001290167.1:p.Tyr556Cys