Canonical Allele Identifier: CA8602532

Gene: ITGA2B

Linked Data

• dbSNP Id: rs551266734
• ExAC: 17:42452055 G / A
• gnomAD v2: 17-42452055-G-A
• gnomAD v3: 17-44374687-G-A
• gnomAD v4: 17-44374687-G-A
• MyVariant Identifiers: chr17:g.42452055G>A (hg19) ; chr17:g.44374687G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374687G>A , CM000679.2:g.44374687G>A	GRCh38
NC_000017.10:g.42452055G>A , CM000679.1:g.42452055G>A	GRCh37
NC_000017.9:g.39807581G>A	NCBI36
NG_008331.1:g.19819C>T , LRG_479:g.19819C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2915C>T MANE Select	ENSP00000262407.5:p.Pro972Leu
ENST00000648408.1:c.2346C>T
ENST00000262407.5:c.2915C>T	ENSP00000262407.5:p.Pro972Leu
ENST00000587295.5:c.253+1146C>T
ENST00000588098.1:c.9C>T
ENST00000592462.5:n.2426C>T
NM_000419.3:c.2915C>T , LRG_479t1:c.2915C>T	NP_000410.2:p.Pro972Leu
XM_011524749.1:c.2842-217C>T	XP_011523051.1:n.2842-217C>T
XM_011524750.1:c.2915C>T	XP_011523052.1:p.Pro972Leu
NM_000419.4:c.2915C>T	NP_000410.2:p.Pro972Leu
NM_000419.5:c.2915C>T MANE Select	NP_000410.2:p.Pro972Leu