Canonical Allele Identifier: CA399788173

Gene: ITGA2B

Linked Data

• MyVariant Identifiers: chr17:g.42451726C>A (hg19) ; chr17:g.44374358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374358C>A , CM000679.2:g.44374358C>A	GRCh38
NC_000017.10:g.42451726C>A , CM000679.1:g.42451726C>A	GRCh37
NC_000017.9:g.39807252C>A	NCBI36
NG_008331.1:g.20148G>T , LRG_479:g.20148G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262407.6:c.3056G>T MANE Select	ENSP00000262407.5:p.Trp1019Leu
ENST00000648408.1:c.2374+301G>T
ENST00000262407.5:c.3056G>T	ENSP00000262407.5:p.Trp1019Leu
ENST00000587295.5:c.253+1475G>T
ENST00000588098.1:c.37+301G>T
ENST00000592462.5:n.2755G>T
NM_000419.3:c.3056G>T , LRG_479t1:c.3056G>T	NP_000410.2:p.Trp1019Leu
XM_011524749.1:c.2954G>T	XP_011523051.1:p.Trp985Leu
XM_011524750.1:c.2943+301G>T	XP_011523052.1:n.2943+301G>T
NM_000419.4:c.3056G>T	NP_000410.2:p.Trp1019Leu
NM_000419.5:c.3056G>T MANE Select	NP_000410.2:p.Trp1019Leu