Canonical Allele Identifier: CA626224482

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1208127968
• gnomAD v2: 17-42452847-C-G
• MyVariant Identifiers: chr17:g.42452847C>G (hg19) ; chr17:g.44375479C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44375479C>G , CM000679.2:g.44375479C>G	GRCh38
NC_000017.10:g.42452847C>G , CM000679.1:g.42452847C>G	GRCh37
NC_000017.9:g.39808373C>G	NCBI36
NG_008331.1:g.19027G>C , LRG_479:g.19027G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2727+112G>C MANE Select	ENSP00000262407.5:n.2727+112G>C
ENST00000648408.1:c.2158+112G>C
ENST00000262407.5:c.2727+112G>C	ENSP00000262407.5:n.2727+112G>C
ENST00000587295.5:c.253+354G>C
ENST00000592462.5:n.1634G>C
NM_000419.3:c.2727+112G>C , LRG_479t1:c.2727+112G>C	NP_000410.2:n.2727+112G>C
XM_011524749.1:c.2727+112G>C	XP_011523051.1:n.2727+112G>C
XM_011524750.1:c.2727+112G>C	XP_011523052.1:n.2727+112G>C
NM_000419.4:c.2727+112G>C	NP_000410.2:n.2727+112G>C
NM_000419.5:c.2727+112G>C MANE Select	NP_000410.2:n.2727+112G>C