Canonical Allele Identifier: CA120459

Gene: ITGB2

Linked Data

• ClinVar Variation Id: 9465
• ClinVar RCV Id: RCV000010073
• dbSNP Id: rs137852613
• MyVariant Identifiers: chr21:g.46314917T>C (hg19) ; chr21:g.44895002T>C (hg38)
• PubMed: PMID:1346613 ; PMID:6237120

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44895002T>C , CM000683.2:g.44895002T>C	GRCh38
NC_000021.8:g.46314917T>C , CM000683.1:g.46314917T>C	GRCh37
NC_000021.7:g.45139345T>C	NCBI36
NG_007270.2:g.38837A>G , LRG_76:g.38837A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302347.10:c.1124A>G	ENSP00000303242.6:p.Asn375Ser
ENST00000652462.1:c.1052A>G MANE Select	ENSP00000498780.1:p.Asn351Ser
ENST00000302347.9:c.1052A>G	ENSP00000303242.5:p.Asn351Ser
ENST00000355153.8:c.1052A>G	ENSP00000347279.4:p.Asn351Ser
ENST00000397850.6:c.1052A>G	ENSP00000380948.2:p.Asn351Ser
ENST00000397852.5:c.1052A>G	ENSP00000380950.1:p.Asn351Ser
ENST00000397854.7:c.881A>G	ENSP00000380952.3:p.Asn294Ser
ENST00000397857.5:c.1052A>G	ENSP00000380955.1:p.Asn351Ser
ENST00000498666.5:n.1195A>G
ENST00000523323.5:c.*879A>G	ENSP00000427732.1:n.*879A>G
ENST00000610622.4:c.881A>G	ENSP00000480700.1:p.Asn294Ser
NM_000211.4:c.1052A>G	NP_000202.3:p.Asn351Ser
NM_001127491.2:c.1052A>G	NP_001120963.2:p.Asn351Ser
NM_001303238.1:c.845A>G	NP_001290167.1:p.Asn282Ser
XM_006724001.1:c.845A>G	XP_006724064.1:p.Asn282Ser
XM_006724001.2:c.845A>G	XP_006724064.1:p.Asn282Ser
NM_000211.5:c.1052A>G MANE Select	NP_000202.3:p.Asn351Ser
NM_001127491.3:c.1052A>G	NP_001120963.2:p.Asn351Ser
NM_001303238.2:c.845A>G	NP_001290167.1:p.Asn282Ser