Canonical Allele Identifier: CA638496066
Community Standard Title: NM_000211.5(ITGB2):c.328+18G>T
Gene: ITGB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44906897C>A , CM000683.2:g.44906897C>A GRCh38
NC_000021.8:g.46326812C>A , CM000683.1:g.46326812C>A GRCh37
NC_000021.7:g.45151240C>A NCBI36
NG_007270.2:g.26942G>T , LRG_76:g.26942G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000211.5:c.328+18G>T MANE Select NP_000202.3:n.328+18G>T
ENST00000652462.1:c.328+18G>T MANE Select ENSP00000498780.1:n.328+18G>T
NM_000211.4:c.328+18G>T NP_000202.3:n.328+18G>T
NM_001127491.2:c.328+18G>T NP_001120963.2:n.328+18G>T
NM_001127491.3:c.328+18G>T NP_001120963.2:n.328+18G>T
NM_001303238.1:c.121+18G>T NP_001290167.1:n.121+18G>T
NM_001303238.2:c.121+18G>T NP_001290167.1:n.121+18G>T
ENST00000302347.10:c.328+18G>T ENSP00000303242.6:n.328+18G>T
ENST00000302347.9:c.328+18G>T ENSP00000303242.5:n.328+18G>T
ENST00000320216.10:c.301+18G>T ENSP00000317697.6:n.301+18G>T
ENST00000355153.8:c.328+18G>T ENSP00000347279.4:n.328+18G>T
ENST00000397850.6:c.328+18G>T ENSP00000380948.2:n.328+18G>T
ENST00000397852.5:c.328+18G>T ENSP00000380950.1:n.328+18G>T
ENST00000397854.7:c.328+18G>T ENSP00000380952.3:n.328+18G>T
ENST00000397857.5:c.328+18G>T ENSP00000380955.1:n.328+18G>T
ENST00000498666.5:n.471+18G>T
ENST00000517563.5:c.328+18G>T ENSP00000428413.1:n.328+18G>T
ENST00000520389.5:c.*155+18G>T ENSP00000428434.1:n.*155+18G>T
ENST00000521987.1:n.113-3362G>T
ENST00000522688.5:c.121+18G>T ENSP00000428125.1:n.121+18G>T
ENST00000522931.5:c.328+18G>T ENSP00000428979.1:n.328+18G>T
ENST00000523323.5:c.*155+18G>T ENSP00000427732.1:n.*155+18G>T
ENST00000523663.5:c.328+18G>T ENSP00000428503.1:n.328+18G>T
ENST00000610622.4:c.328+18G>T ENSP00000480700.1:n.328+18G>T
XM_006724001.1:c.121+18G>T XP_006724064.1:n.121+18G>T
XM_006724001.2:c.121+18G>T XP_006724064.1:n.121+18G>T