Canonical Allele Identifier: CA749738202

Gene: ITGB2

Linked Data

• dbSNP Id: rs1034142253
• gnomAD v3: 21-44893097-AGCACCCTCTCG-A
• gnomAD v4: 21-44893097-AGCACCCTCTCG-A
• MyVariant Identifiers: chr21:g.46313013_46313023del (hg19) ; chr21:g.44893098_44893108del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44893108_44893118del , CM000683.2:g.44893108_44893118del	GRCh38
NC_000021.8:g.46313023_46313033del , CM000683.1:g.46313023_46313033del	GRCh37
NC_000021.7:g.45137451_45137461del	NCBI36
NG_007270.2:g.40731_40741del , LRG_76:g.40731_40741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1296+296_1296+306del	ENSP00000303242.6:n.1296+296_1296+306del
ENST00000652462.1:c.1224+296_1224+306del MANE Select	ENSP00000498780.1:n.1224+296_1224+306del
ENST00000302347.9:c.1224+296_1224+306del	ENSP00000303242.5:n.1224+296_1224+306del
ENST00000355153.8:c.1224+296_1224+306del	ENSP00000347279.4:n.1224+296_1224+306del
ENST00000397850.6:c.1224+296_1224+306del	ENSP00000380948.2:n.1224+296_1224+306del
ENST00000397852.5:c.1224+296_1224+306del	ENSP00000380950.1:n.1224+296_1224+306del
ENST00000397854.7:c.1053+296_1053+306del	ENSP00000380952.3:n.1053+296_1053+306del
ENST00000397857.5:c.1224+296_1224+306del	ENSP00000380955.1:n.1224+296_1224+306del
ENST00000475170.5:n.624+296_624+306del
ENST00000498666.5:n.3089_3099del
ENST00000523323.5:c.*1051+296_*1051+306del	ENSP00000427732.1:n.*1051+296_*1051+306del
ENST00000610622.4:c.1053+296_1053+306del	ENSP00000480700.1:n.1053+296_1053+306del
NM_000211.4:c.1224+296_1224+306del	NP_000202.3:n.1224+296_1224+306del
NM_001127491.2:c.1224+296_1224+306del	NP_001120963.2:n.1224+296_1224+306del
NM_001303238.1:c.1017+296_1017+306del	NP_001290167.1:n.1017+296_1017+306del
XM_006724001.1:c.1017+296_1017+306del	XP_006724064.1:n.1017+296_1017+306del
XM_006724001.2:c.1017+296_1017+306del	XP_006724064.1:n.1017+296_1017+306del
NM_000211.5:c.1224+296_1224+306del MANE Select	NP_000202.3:n.1224+296_1224+306del
NM_001127491.3:c.1224+296_1224+306del	NP_001120963.2:n.1224+296_1224+306del
NM_001303238.2:c.1017+296_1017+306del	NP_001290167.1:n.1017+296_1017+306del