Canonical Allele Identifier: CA626224539

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1415335252
• gnomAD v2: 17-42453113-A-G
• gnomAD v3: 17-44375745-A-G
• gnomAD v4: 17-44375745-A-G
• MyVariant Identifiers: chr17:g.42453113A>G (hg19) ; chr17:g.44375745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375745A>G , CM000679.2:g.44375745A>G	GRCh38
NC_000017.10:g.42453113A>G , CM000679.1:g.42453113A>G	GRCh37
NC_000017.9:g.39808639A>G	NCBI36
NG_008331.1:g.18761T>C , LRG_479:g.18761T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2602-29T>C MANE Select	ENSP00000262407.5:n.2602-29T>C
ENST00000648408.1:c.2033-29T>C
ENST00000262407.5:c.2602-29T>C	ENSP00000262407.5:n.2602-29T>C
ENST00000587295.5:c.253+88T>C
ENST00000592462.5:n.1397-29T>C
NM_000419.3:c.2602-29T>C , LRG_479t1:c.2602-29T>C	NP_000410.2:n.2602-29T>C
XM_011524749.1:c.2602-29T>C	XP_011523051.1:n.2602-29T>C
XM_011524750.1:c.2602-29T>C	XP_011523052.1:n.2602-29T>C
NM_000419.4:c.2602-29T>C	NP_000410.2:n.2602-29T>C
NM_000419.5:c.2602-29T>C MANE Select	NP_000410.2:n.2602-29T>C