Canonical Allele Identifier: CA10063132

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 743837
• ClinVar RCV Id: RCV000920222
• dbSNP Id: rs369981986
• ExAC: 21:46321467 G / A
• gnomAD v2: 21-46321467-G-A
• gnomAD v3: 21-44901552-G-A
• gnomAD v4: 21-44901552-G-A
• MyVariant Identifiers: chr21:g.46321467G>A (hg19) ; chr21:g.44901552G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44901552G>A , CM000683.2:g.44901552G>A	GRCh38
NC_000021.8:g.46321467G>A , CM000683.1:g.46321467G>A	GRCh37
NC_000021.7:g.45145895G>A	NCBI36
NG_007270.2:g.32287C>T , LRG_76:g.32287C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302347.10:c.681C>T	ENSP00000303242.6:p.Ser227=
ENST00000652462.1:c.681C>T MANE Select	ENSP00000498780.1:p.Ser227=
ENST00000302347.9:c.681C>T	ENSP00000303242.5:p.Ser227=
ENST00000320216.10:c.654C>T	ENSP00000317697.6:p.Ser218=
ENST00000355153.8:c.681C>T	ENSP00000347279.4:p.Ser227=
ENST00000397850.6:c.681C>T	ENSP00000380948.2:p.Ser227=
ENST00000397852.5:c.681C>T	ENSP00000380950.1:p.Ser227=
ENST00000397854.7:c.510C>T	ENSP00000380952.3:p.Ser170=
ENST00000397857.5:c.681C>T	ENSP00000380955.1:p.Ser227=
ENST00000498666.5:n.824C>T
ENST00000521987.1:n.562C>T
ENST00000523323.5:c.*508C>T	ENSP00000427732.1:n.*508C>T
ENST00000610622.4:c.510C>T	ENSP00000480700.1:p.Ser170=
NM_000211.4:c.681C>T	NP_000202.3:p.Ser227=
NM_001127491.2:c.681C>T	NP_001120963.2:p.Ser227=
NM_001303238.1:c.474C>T	NP_001290167.1:p.Ser158=
XM_006724001.1:c.474C>T	XP_006724064.1:p.Ser158=
XM_006724001.2:c.474C>T	XP_006724064.1:p.Ser158=
NM_000211.5:c.681C>T MANE Select	NP_000202.3:p.Ser227=
NM_001127491.3:c.681C>T	NP_001120963.2:p.Ser227=
NM_001303238.2:c.474C>T	NP_001290167.1:p.Ser158=