Canonical Allele Identifier: CA399803516

Gene: ITGA2B

Linked Data

• dbSNP Id: rs2048591131
• gnomAD v4: 17-44380908-G-A
• MyVariant Identifiers: chr17:g.42458276G>A (hg19) ; chr17:g.44380908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44380908G>A , CM000679.2:g.44380908G>A	GRCh38
NC_000017.10:g.42458276G>A , CM000679.1:g.42458276G>A	GRCh37
NC_000017.9:g.39813802G>A	NCBI36
NG_008331.1:g.13598C>T , LRG_479:g.13598C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.1364C>T MANE Select	ENSP00000262407.5:p.Ala455Val
ENST00000648408.1:c.795C>T
ENST00000262407.5:c.1364C>T	ENSP00000262407.5:p.Ala455Val
ENST00000592226.5:n.604C>T
ENST00000592462.5:n.159C>T
NM_000419.3:c.1364C>T , LRG_479t1:c.1364C>T	NP_000410.2:p.Ala455Val
XM_011524749.1:c.1364C>T	XP_011523051.1:p.Ala455Val
XM_011524750.1:c.1364C>T	XP_011523052.1:p.Ala455Val
NM_000419.4:c.1364C>T	NP_000410.2:p.Ala455Val
NM_000419.5:c.1364C>T MANE Select	NP_000410.2:p.Ala455Val