Canonical Allele Identifier: CA512551609
Gene: ITGB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr21:g.46314910G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44894995G>C , CM000683.2:g.44894995G>C GRCh38
NC_000021.8:g.46314910G>C , CM000683.1:g.46314910G>C GRCh37
NC_000021.7:g.45139338G>C NCBI36
NG_007270.2:g.38844C>G , LRG_76:g.38844C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000302347.10:c.1131C>G ENSP00000303242.6:p.Val377=
ENST00000652462.1:c.1059C>G MANE Select ENSP00000498780.1:p.Val353=
ENST00000302347.9:c.1059C>G ENSP00000303242.5:p.Val353=
ENST00000355153.8:c.1059C>G ENSP00000347279.4:p.Val353=
ENST00000397850.6:c.1059C>G ENSP00000380948.2:p.Val353=
ENST00000397852.5:c.1059C>G ENSP00000380950.1:p.Val353=
ENST00000397854.7:c.888C>G ENSP00000380952.3:p.Val296=
ENST00000397857.5:c.1059C>G ENSP00000380955.1:p.Val353=
ENST00000498666.5:n.1202C>G
ENST00000523323.5:c.*886C>G ENSP00000427732.1:n.*886C>G
ENST00000610622.4:c.888C>G ENSP00000480700.1:p.Val296=
NM_000211.4:c.1059C>G NP_000202.3:p.Val353=
NM_001127491.2:c.1059C>G NP_001120963.2:p.Val353=
NM_001303238.1:c.852C>G NP_001290167.1:p.Val284=
XM_006724001.1:c.852C>G XP_006724064.1:p.Val284=
XM_006724001.2:c.852C>G XP_006724064.1:p.Val284=
NM_000211.5:c.1059C>G MANE Select NP_000202.3:p.Val353=
NM_001127491.3:c.1059C>G NP_001120963.2:p.Val353=
NM_001303238.2:c.852C>G NP_001290167.1:p.Val284=