Canonical Allele Identifier: CA410476070

Gene: ITGB2

Linked Data

• MyVariant Identifiers: chr21:g.46321462T>G (hg19) ; chr21:g.44901547T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44901547T>G , CM000683.2:g.44901547T>G	GRCh38
NC_000021.8:g.46321462T>G , CM000683.1:g.46321462T>G	GRCh37
NC_000021.7:g.45145890T>G	NCBI36
NG_007270.2:g.32292A>C , LRG_76:g.32292A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000302347.10:c.686A>C	ENSP00000303242.6:p.Asn229Thr
ENST00000652462.1:c.686A>C MANE Select	ENSP00000498780.1:p.Asn229Thr
ENST00000302347.9:c.686A>C	ENSP00000303242.5:p.Asn229Thr
ENST00000320216.10:c.659A>C	ENSP00000317697.6:p.Asn220Thr
ENST00000355153.8:c.686A>C	ENSP00000347279.4:p.Asn229Thr
ENST00000397850.6:c.686A>C	ENSP00000380948.2:p.Asn229Thr
ENST00000397852.5:c.686A>C	ENSP00000380950.1:p.Asn229Thr
ENST00000397854.7:c.515A>C	ENSP00000380952.3:p.Asn172Thr
ENST00000397857.5:c.686A>C	ENSP00000380955.1:p.Asn229Thr
ENST00000498666.5:n.829A>C
ENST00000523323.5:c.*513A>C	ENSP00000427732.1:n.*513A>C
ENST00000610622.4:c.515A>C	ENSP00000480700.1:p.Asn172Thr
NM_000211.4:c.686A>C	NP_000202.3:p.Asn229Thr
NM_001127491.2:c.686A>C	NP_001120963.2:p.Asn229Thr
NM_001303238.1:c.479A>C	NP_001290167.1:p.Asn160Thr
XM_006724001.1:c.479A>C	XP_006724064.1:p.Asn160Thr
XM_006724001.2:c.479A>C	XP_006724064.1:p.Asn160Thr
NM_000211.5:c.686A>C MANE Select	NP_000202.3:p.Asn229Thr
NM_001127491.3:c.686A>C	NP_001120963.2:p.Asn229Thr
NM_001303238.2:c.479A>C	NP_001290167.1:p.Asn160Thr