Canonical Allele Identifier: CA10062904

Gene: ITGB2

Linked Data

• dbSNP Id: rs779145295
• ExAC: 21:46313345 A / C
• gnomAD v2: 21-46313345-A-C
• gnomAD v4: 21-44893430-A-C
• MyVariant Identifiers: chr21:g.46313345A>C (hg19) ; chr21:g.44893430A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44893430A>C , CM000683.2:g.44893430A>C	GRCh38
NC_000021.8:g.46313345A>C , CM000683.1:g.46313345A>C	GRCh37
NC_000021.7:g.45137773A>C	NCBI36
NG_007270.2:g.40409T>G , LRG_76:g.40409T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1270T>G	ENSP00000303242.6:p.Cys424Gly
ENST00000652462.1:c.1198T>G MANE Select	ENSP00000498780.1:p.Cys400Gly
ENST00000302347.9:c.1198T>G	ENSP00000303242.5:p.Cys400Gly
ENST00000355153.8:c.1198T>G	ENSP00000347279.4:p.Cys400Gly
ENST00000397850.6:c.1198T>G	ENSP00000380948.2:p.Cys400Gly
ENST00000397852.5:c.1198T>G	ENSP00000380950.1:p.Cys400Gly
ENST00000397854.7:c.1027T>G	ENSP00000380952.3:p.Cys343Gly
ENST00000397857.5:c.1198T>G	ENSP00000380955.1:p.Cys400Gly
ENST00000475170.5:n.598T>G
ENST00000498666.5:n.2767T>G
ENST00000523323.5:c.*1025T>G	ENSP00000427732.1:n.*1025T>G
ENST00000610622.4:c.1027T>G	ENSP00000480700.1:p.Cys343Gly
NM_000211.4:c.1198T>G	NP_000202.3:p.Cys400Gly
NM_001127491.2:c.1198T>G	NP_001120963.2:p.Cys400Gly
NM_001303238.1:c.991T>G	NP_001290167.1:p.Cys331Gly
XM_006724001.1:c.991T>G	XP_006724064.1:p.Cys331Gly
XM_006724001.2:c.991T>G	XP_006724064.1:p.Cys331Gly
NM_000211.5:c.1198T>G MANE Select	NP_000202.3:p.Cys400Gly
NM_001127491.3:c.1198T>G	NP_001120963.2:p.Cys400Gly
NM_001303238.2:c.991T>G	NP_001290167.1:p.Cys331Gly