Canonical Allele Identifier: CA14887813
Community Standard Title: NM_000211.5(ITGB2):c.500-170T>C
Gene: ITGB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44901903A>G , CM000683.2:g.44901903A>G GRCh38
NC_000021.8:g.46321818A>G , CM000683.1:g.46321818A>G GRCh37
NC_000021.7:g.45146246A>G NCBI36
NG_007270.2:g.31936T>C , LRG_76:g.31936T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000211.5:c.500-170T>C MANE Select NP_000202.3:n.500-170T>C
ENST00000652462.1:c.500-170T>C MANE Select ENSP00000498780.1:n.500-170T>C
NM_000211.4:c.500-170T>C NP_000202.3:n.500-170T>C
NM_001127491.2:c.500-170T>C NP_001120963.2:n.500-170T>C
NM_001127491.3:c.500-170T>C NP_001120963.2:n.500-170T>C
NM_001303238.1:c.293-170T>C NP_001290167.1:n.293-170T>C
NM_001303238.2:c.293-170T>C NP_001290167.1:n.293-170T>C
ENST00000302347.10:c.500-170T>C ENSP00000303242.6:n.500-170T>C
ENST00000302347.9:c.500-170T>C ENSP00000303242.5:n.500-170T>C
ENST00000320216.10:c.473-170T>C ENSP00000317697.6:n.473-170T>C
ENST00000355153.8:c.500-170T>C ENSP00000347279.4:n.500-170T>C
ENST00000397850.6:c.500-170T>C ENSP00000380948.2:n.500-170T>C
ENST00000397852.5:c.500-170T>C ENSP00000380950.1:n.500-170T>C
ENST00000397854.7:c.329-170T>C ENSP00000380952.3:n.329-170T>C
ENST00000397857.5:c.500-170T>C ENSP00000380955.1:n.500-170T>C
ENST00000498666.5:n.643-170T>C
ENST00000521987.1:n.284-73T>C
ENST00000523323.5:c.*327-170T>C ENSP00000427732.1:n.*327-170T>C
ENST00000610622.4:c.329-170T>C ENSP00000480700.1:n.329-170T>C
XM_006724001.1:c.293-170T>C XP_006724064.1:n.293-170T>C
XM_006724001.2:c.293-170T>C XP_006724064.1:n.293-170T>C