Canonical Allele Identifier: CA410476079

Gene: ITGB2

Linked Data

• MyVariant Identifiers: chr21:g.46321468G>C (hg19) ; chr21:g.44901553G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44901553G>C , CM000683.2:g.44901553G>C	GRCh38
NC_000021.8:g.46321468G>C , CM000683.1:g.46321468G>C	GRCh37
NC_000021.7:g.45145896G>C	NCBI36
NG_007270.2:g.32286C>G , LRG_76:g.32286C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302347.10:c.680C>G	ENSP00000303242.6:p.Ser227Cys
ENST00000652462.1:c.680C>G MANE Select	ENSP00000498780.1:p.Ser227Cys
ENST00000302347.9:c.680C>G	ENSP00000303242.5:p.Ser227Cys
ENST00000320216.10:c.653C>G	ENSP00000317697.6:p.Ser218Cys
ENST00000355153.8:c.680C>G	ENSP00000347279.4:p.Ser227Cys
ENST00000397850.6:c.680C>G	ENSP00000380948.2:p.Ser227Cys
ENST00000397852.5:c.680C>G	ENSP00000380950.1:p.Ser227Cys
ENST00000397854.7:c.509C>G	ENSP00000380952.3:p.Ser170Cys
ENST00000397857.5:c.680C>G	ENSP00000380955.1:p.Ser227Cys
ENST00000498666.5:n.823C>G
ENST00000521987.1:n.561C>G
ENST00000523323.5:c.*507C>G	ENSP00000427732.1:n.*507C>G
ENST00000610622.4:c.509C>G	ENSP00000480700.1:p.Ser170Cys
NM_000211.4:c.680C>G	NP_000202.3:p.Ser227Cys
NM_001127491.2:c.680C>G	NP_001120963.2:p.Ser227Cys
NM_001303238.1:c.473C>G	NP_001290167.1:p.Ser158Cys
XM_006724001.1:c.473C>G	XP_006724064.1:p.Ser158Cys
XM_006724001.2:c.473C>G	XP_006724064.1:p.Ser158Cys
NM_000211.5:c.680C>G MANE Select	NP_000202.3:p.Ser227Cys
NM_001127491.3:c.680C>G	NP_001120963.2:p.Ser227Cys
NM_001303238.2:c.473C>G	NP_001290167.1:p.Ser158Cys