Canonical Allele Identifier: CA399803557

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42458296A>T (hg19) ; chr17:g.44380928A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44380928A>T , CM000679.2:g.44380928A>T	GRCh38
NC_000017.10:g.42458296A>T , CM000679.1:g.42458296A>T	GRCh37
NC_000017.9:g.39813822A>T	NCBI36
NG_008331.1:g.13578T>A , LRG_479:g.13578T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.1344T>A MANE Select	ENSP00000262407.5:p.Phe448Leu
ENST00000648408.1:c.775T>A
ENST00000262407.5:c.1344T>A	ENSP00000262407.5:p.Phe448Leu
ENST00000592226.5:n.584T>A
ENST00000592462.5:n.139T>A
NM_000419.3:c.1344T>A , LRG_479t1:c.1344T>A	NP_000410.2:p.Phe448Leu
XM_011524749.1:c.1344T>A	XP_011523051.1:p.Phe448Leu
XM_011524750.1:c.1344T>A	XP_011523052.1:p.Phe448Leu
NM_000419.4:c.1344T>A	NP_000410.2:p.Phe448Leu
NM_000419.5:c.1344T>A MANE Select	NP_000410.2:p.Phe448Leu