Canonical Allele Identifier: CA626118841

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1361166387
• gnomAD v2: 17-42449609-G-GT
• gnomAD v3: 17-44372241-G-GT
• gnomAD v4: 17-44372241-G-GT
• MyVariant Identifiers: chr17:g.42449609_42449610insT (hg19) ; chr17:g.44372241_44372242insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44372241_44372242insT , CM000679.2:g.44372241_44372242insT	GRCh38
NC_000017.10:g.42449609_42449610insT , CM000679.1:g.42449609_42449610insT	GRCh37
NC_000017.9:g.39805135_39805136insT	NCBI36
NG_008331.1:g.22264_22265insA , LRG_479:g.22264_22265insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.*122_*123insA MANE Select	ENSP00000262407.5:n.*122_*123insA
ENST00000648408.1:c.2556_2557insA
ENST00000262407.5:c.*122_*123insA	ENSP00000262407.5:n.*122_*123insA
ENST00000587295.5:c.435_436insA
ENST00000588098.1:c.219_220insA
NM_000419.3:c.*122_*123insA , LRG_479t1:c.*122_*123insA	NP_000410.2:n.*122_*123insA
XM_011524749.1:c.*122_*123insA	XP_011523051.1:n.*122_*123insA
XM_011524750.1:c.*122_*123insA	XP_011523052.1:n.*122_*123insA
NM_000419.4:c.*122_*123insA	NP_000410.2:n.*122_*123insA
NM_000419.5:c.*122_*123insA MANE Select	NP_000410.2:n.*122_*123insA