Canonical Allele Identifier: CA2499306185
Gene: ITGB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.[44889397G>A;44900489G>T] , CM000683.2:g.[44889397G>A;44900489G>T] GRCh38
NC_000021.8:g.[46309312G>A;46320404G>T] , CM000683.1:g.[46309312G>A;46320404G>T] GRCh37
NC_000021.7:g.[45133740G>A;45144832G>T] NCBI36
NG_007270.2:g.[33350C>A;44442C>T] , LRG_76:g.[33350C>A;44442C>T]

Transcript Alleles

HGVS Amino-acid Change
ENST00000302347.10:c.[742-14C>A;1828C>T] ENSP00000303242.6:p.Arg610Trp
ENST00000652462.1:c.[742-14C>A;1756C>T] MANE Select ENSP00000498780.1:p.Arg586Trp
ENST00000302347.9:c.[742-14C>A;1756C>T] ENSP00000303242.5:p.Arg586Trp
ENST00000355153.8:c.[742-14C>A;1756C>T] ENSP00000347279.4:p.Arg586Trp
ENST00000397850.6:c.[742-14C>A;1756C>T] ENSP00000380948.2:p.Arg586Trp
ENST00000397852.5:c.[742-14C>A;1756C>T] ENSP00000380950.1:p.Arg586Trp
ENST00000397854.7:c.[571-14C>A;1585C>T] ENSP00000380952.3:p.Arg529Trp
ENST00000397857.5:c.[742-14C>A;1756C>T] ENSP00000380955.1:p.Arg586Trp
ENST00000498666.5:n.[885-14C>A;3812C>T]
ENST00000523323.5:c.[*569-14C>A;*1583C>T] ENSP00000427732.1:n.[*569-14C>A;*1583C>T]
ENST00000610622.4:c.[571-14C>A;*447C>T] ENSP00000480700.1:n.[571-14C>A;*447C>T]
NM_000211.4:c.[742-14C>A;1756C>T] NP_000202.3:p.Arg586Trp
NM_001127491.2:c.[742-14C>A;1756C>T] NP_001120963.2:p.Arg586Trp
NM_001303238.1:c.[535-14C>A;1549C>T] NP_001290167.1:p.Arg517Trp
XM_006724001.1:c.[535-14C>A;1549C>T] XP_006724064.1:p.Arg517Trp
XM_006724001.2:c.[535-14C>A;1549C>T] XP_006724064.1:p.Arg517Trp
NM_000211.5:c.[742-14C>A;1756C>T] MANE Select NP_000202.3:p.Arg586Trp
NM_001127491.3:c.[742-14C>A;1756C>T] NP_001120963.2:p.Arg586Trp
NM_001303238.2:c.[535-14C>A;1549C>T] NP_001290167.1:p.Arg517Trp