Canonical Allele Identifier: CA399790654

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42452053G>T (hg19) ; chr17:g.44374685G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374685G>T , CM000679.2:g.44374685G>T	GRCh38
NC_000017.10:g.42452053G>T , CM000679.1:g.42452053G>T	GRCh37
NC_000017.9:g.39807579G>T	NCBI36
NG_008331.1:g.19821C>A , LRG_479:g.19821C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2917C>A MANE Select	ENSP00000262407.5:p.Leu973Ile
ENST00000648408.1:c.2348C>A
ENST00000262407.5:c.2917C>A	ENSP00000262407.5:p.Leu973Ile
ENST00000587295.5:c.253+1148C>A
ENST00000588098.1:c.11C>A
ENST00000592462.5:n.2428C>A
NM_000419.3:c.2917C>A , LRG_479t1:c.2917C>A	NP_000410.2:p.Leu973Ile
XM_011524749.1:c.2842-215C>A	XP_011523051.1:n.2842-215C>A
XM_011524750.1:c.2917C>A	XP_011523052.1:p.Leu973Ile
NM_000419.4:c.2917C>A	NP_000410.2:p.Leu973Ile
NM_000419.5:c.2917C>A MANE Select	NP_000410.2:p.Leu973Ile