Canonical Allele Identifier: CA14864654
Community Standard Title: NM_000211.5(ITGB2):c.328+252G>A
Gene: ITGB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44906663C>T , CM000683.2:g.44906663C>T GRCh38
NC_000021.8:g.46326578C>T , CM000683.1:g.46326578C>T GRCh37
NC_000021.7:g.45151006C>T NCBI36
NG_007270.2:g.27176G>A , LRG_76:g.27176G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000211.5:c.328+252G>A MANE Select NP_000202.3:n.328+252G>A
ENST00000652462.1:c.328+252G>A MANE Select ENSP00000498780.1:n.328+252G>A
NM_000211.4:c.328+252G>A NP_000202.3:n.328+252G>A
NM_001127491.2:c.328+252G>A NP_001120963.2:n.328+252G>A
NM_001127491.3:c.328+252G>A NP_001120963.2:n.328+252G>A
NM_001303238.1:c.121+252G>A NP_001290167.1:n.121+252G>A
NM_001303238.2:c.121+252G>A NP_001290167.1:n.121+252G>A
ENST00000302347.10:c.328+252G>A ENSP00000303242.6:n.328+252G>A
ENST00000302347.9:c.328+252G>A ENSP00000303242.5:n.328+252G>A
ENST00000320216.10:c.301+252G>A ENSP00000317697.6:n.301+252G>A
ENST00000355153.8:c.328+252G>A ENSP00000347279.4:n.328+252G>A
ENST00000397850.6:c.328+252G>A ENSP00000380948.2:n.328+252G>A
ENST00000397852.5:c.328+252G>A ENSP00000380950.1:n.328+252G>A
ENST00000397854.7:c.328+252G>A ENSP00000380952.3:n.328+252G>A
ENST00000397857.5:c.328+252G>A ENSP00000380955.1:n.328+252G>A
ENST00000498666.5:n.471+252G>A
ENST00000517563.5:c.328+252G>A ENSP00000428413.1:n.328+252G>A
ENST00000520389.5:c.*155+252G>A ENSP00000428434.1:n.*155+252G>A
ENST00000521987.1:n.113-3128G>A
ENST00000522688.5:c.121+252G>A ENSP00000428125.1:n.121+252G>A
ENST00000522931.5:c.328+252G>A ENSP00000428979.1:n.328+252G>A
ENST00000523323.5:c.*155+252G>A ENSP00000427732.1:n.*155+252G>A
ENST00000523663.5:c.328+252G>A ENSP00000428503.1:n.328+252G>A
ENST00000610622.4:c.328+252G>A ENSP00000480700.1:n.328+252G>A
XM_006724001.1:c.121+252G>A XP_006724064.1:n.121+252G>A
XM_006724001.2:c.121+252G>A XP_006724064.1:n.121+252G>A