Canonical Allele Identifier: CA399805339

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42462396G>C (hg19) ; chr17:g.44385028G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44385028G>C , CM000679.2:g.44385028G>C	GRCh38
NC_000017.10:g.42462396G>C , CM000679.1:g.42462396G>C	GRCh37
NC_000017.9:g.39817922G>C	NCBI36
NG_008331.1:g.9478C>G , LRG_479:g.9478C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.719C>G MANE Select	ENSP00000262407.5:p.Pro240Arg
ENST00000648408.1:c.150C>G
ENST00000262407.5:c.719C>G	ENSP00000262407.5:p.Pro240Arg
ENST00000589645.5:n.170C>G
ENST00000591990.5:n.81C>G
ENST00000592075.5:n.88C>G
ENST00000592226.5:n.39+136C>G
ENST00000592253.5:n.227C>G
ENST00000592944.1:n.401C>G
NM_000419.3:c.719C>G , LRG_479t1:c.719C>G	NP_000410.2:p.Pro240Arg
XM_011524749.1:c.719C>G	XP_011523051.1:p.Pro240Arg
XM_011524750.1:c.719C>G	XP_011523052.1:p.Pro240Arg
NM_000419.4:c.719C>G	NP_000410.2:p.Pro240Arg
NM_000419.5:c.719C>G MANE Select	NP_000410.2:p.Pro240Arg