Canonical Allele Identifier: CA410482447

Gene: ITGB2

Linked Data

• dbSNP Id: rs1601277528
• gnomAD v4: 21-44886786-G-A
• COSMIC: COSM5960570
• MyVariant Identifiers: chr21:g.46306701G>A (hg19) ; chr21:g.44886786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44886786G>A , CM000683.2:g.44886786G>A	GRCh38
NC_000021.8:g.46306701G>A , CM000683.1:g.46306701G>A	GRCh37
NC_000021.7:g.45131129G>A	NCBI36
NG_007270.2:g.47053C>T , LRG_76:g.47053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696946.1:n.1404C>T
ENST00000302347.10:c.2269C>T	ENSP00000303242.6:p.Arg757Trp
ENST00000652462.1:c.2197C>T MANE Select	ENSP00000498780.1:p.Arg733Trp
ENST00000302347.9:c.2197C>T	ENSP00000303242.5:p.Arg733Trp
ENST00000355153.8:c.2197C>T	ENSP00000347279.4:p.Arg733Trp
ENST00000397850.6:c.2197C>T	ENSP00000380948.2:p.Arg733Trp
ENST00000397852.5:c.2197C>T	ENSP00000380950.1:p.Arg733Trp
ENST00000397854.7:c.2026C>T	ENSP00000380952.3:p.Arg676Trp
ENST00000397857.5:c.2197C>T	ENSP00000380955.1:p.Arg733Trp
ENST00000475170.5:n.1597C>T
ENST00000479202.5:n.556C>T
ENST00000498666.5:n.4253C>T
ENST00000523323.5:c.*2024C>T	ENSP00000427732.1:n.*2024C>T
ENST00000610622.4:c.*888C>T	ENSP00000480700.1:n.*888C>T
NM_000211.4:c.2197C>T	NP_000202.3:p.Arg733Trp
NM_001127491.2:c.2197C>T	NP_001120963.2:p.Arg733Trp
NM_001303238.1:c.1990C>T	NP_001290167.1:p.Arg664Trp
XM_006724001.1:c.1990C>T	XP_006724064.1:p.Arg664Trp
XM_006724001.2:c.1990C>T	XP_006724064.1:p.Arg664Trp
NM_000211.5:c.2197C>T MANE Select	NP_000202.3:p.Arg733Trp
NM_001127491.3:c.2197C>T	NP_001120963.2:p.Arg733Trp
NM_001303238.2:c.1990C>T	NP_001290167.1:p.Arg664Trp