Canonical Allele Identifier: CA749738939

Gene: ITGB2

Linked Data

• dbSNP Id: rs1177533386
• gnomAD v4: 21-44893770-GGGTGTGA-G
• MyVariant Identifiers: chr21:g.46313686_46313692del (hg19) ; chr21:g.44893771_44893777del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.44893772_44893778del , CM000683.2:g.44893772_44893778del	GRCh38
NC_000021.8:g.46313687_46313693del , CM000683.1:g.46313687_46313693del	GRCh37
NC_000021.7:g.45138115_45138121del	NCBI36
NG_007270.2:g.40062_40068del , LRG_76:g.40062_40068del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302347.10:c.1156-233_1156-227del	ENSP00000303242.6:n.1156-233_1156-227del
ENST00000652462.1:c.1084-233_1084-227del MANE Select	ENSP00000498780.1:n.1084-233_1084-227del
ENST00000302347.9:c.1084-233_1084-227del	ENSP00000303242.5:n.1084-233_1084-227del
ENST00000355153.8:c.1084-233_1084-227del	ENSP00000347279.4:n.1084-233_1084-227del
ENST00000397850.6:c.1084-233_1084-227del	ENSP00000380948.2:n.1084-233_1084-227del
ENST00000397852.5:c.1084-233_1084-227del	ENSP00000380950.1:n.1084-233_1084-227del
ENST00000397854.7:c.913-233_913-227del	ENSP00000380952.3:n.913-233_913-227del
ENST00000397857.5:c.1084-233_1084-227del	ENSP00000380955.1:n.1084-233_1084-227del
ENST00000475170.5:n.251_257del
ENST00000498666.5:n.2420_2426del
ENST00000523323.5:c.*911-233_*911-227del	ENSP00000427732.1:n.*911-233_*911-227del
ENST00000610622.4:c.913-233_913-227del	ENSP00000480700.1:n.913-233_913-227del
NM_000211.4:c.1084-233_1084-227del	NP_000202.3:n.1084-233_1084-227del
NM_001127491.2:c.1084-233_1084-227del	NP_001120963.2:n.1084-233_1084-227del
NM_001303238.1:c.877-233_877-227del	NP_001290167.1:n.877-233_877-227del
XM_006724001.1:c.877-233_877-227del	XP_006724064.1:n.877-233_877-227del
XM_006724001.2:c.877-233_877-227del	XP_006724064.1:n.877-233_877-227del
NM_000211.5:c.1084-233_1084-227del MANE Select	NP_000202.3:n.1084-233_1084-227del
NM_001127491.3:c.1084-233_1084-227del	NP_001120963.2:n.1084-233_1084-227del
NM_001303238.2:c.877-233_877-227del	NP_001290167.1:n.877-233_877-227del