Canonical Allele Identifier: CA249768
Gene: ITGB2 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44903541G>A , CM000683.2:g.44903541G>A GRCh38
NC_000021.8:g.46323456G>A , CM000683.1:g.46323456G>A GRCh37
NC_000021.7:g.45147884G>A NCBI36
NG_007270.2:g.30298C>T , LRG_76:g.30298C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000302347.10:c.329-6C>T ENSP00000303242.6:n.329-6C>T
ENST00000652462.1:c.329-6C>T MANE Select ENSP00000498780.1:n.329-6C>T
ENST00000302347.9:c.329-6C>T ENSP00000303242.5:n.329-6C>T
ENST00000320216.10:c.302-6C>T ENSP00000317697.6:n.302-6C>T
ENST00000355153.8:c.329-6C>T ENSP00000347279.4:n.329-6C>T
ENST00000397850.6:c.329-6C>T ENSP00000380948.2:n.329-6C>T
ENST00000397852.5:c.329-6C>T ENSP00000380950.1:n.329-6C>T
ENST00000397854.7:c.329-1808C>T ENSP00000380952.3:n.329-1808C>T
ENST00000397857.5:c.329-6C>T ENSP00000380955.1:n.329-6C>T
ENST00000498666.5:n.472-6C>T
ENST00000517563.5:c.329-6C>T ENSP00000428413.1:n.329-6C>T
ENST00000520389.5:c.*156-6C>T ENSP00000428434.1:n.*156-6C>T
ENST00000521987.1:n.113-6C>T
ENST00000522688.5:c.122-6C>T ENSP00000428125.1:n.122-6C>T
ENST00000522931.5:c.329-6C>T ENSP00000428979.1:n.329-6C>T
ENST00000523323.5:c.*156-6C>T ENSP00000427732.1:n.*156-6C>T
ENST00000523663.5:c.329-6C>T ENSP00000428503.1:n.329-6C>T
ENST00000610622.4:c.329-1808C>T ENSP00000480700.1:n.329-1808C>T
NM_000211.4:c.329-6C>T NP_000202.3:n.329-6C>T
NM_001127491.2:c.329-6C>T NP_001120963.2:n.329-6C>T
NM_001303238.1:c.122-6C>T NP_001290167.1:n.122-6C>T
XM_006724001.1:c.122-6C>T XP_006724064.1:n.122-6C>T
XM_006724001.2:c.122-6C>T XP_006724064.1:n.122-6C>T
NM_000211.5:c.329-6C>T MANE Select NP_000202.3:n.329-6C>T
NM_001127491.3:c.329-6C>T NP_001120963.2:n.329-6C>T
NM_001303238.2:c.122-6C>T NP_001290167.1:n.122-6C>T