Canonical Allele Identifier: CA8602534

Gene: ITGA2B

Linked Data

• dbSNP Id: rs746156212
• ExAC: 17:42452057 G / A
• gnomAD v2: 17-42452057-G-A
• gnomAD v4: 17-44374689-G-A
• MyVariant Identifiers: chr17:g.42452057G>A (hg19) ; chr17:g.44374689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374689G>A , CM000679.2:g.44374689G>A	GRCh38
NC_000017.10:g.42452057G>A , CM000679.1:g.42452057G>A	GRCh37
NC_000017.9:g.39807583G>A	NCBI36
NG_008331.1:g.19817C>T , LRG_479:g.19817C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2913C>T MANE Select	ENSP00000262407.5:p.Pro971=
ENST00000648408.1:c.2344C>T
ENST00000262407.5:c.2913C>T	ENSP00000262407.5:p.Pro971=
ENST00000587295.5:c.253+1144C>T
ENST00000588098.1:c.7C>T
ENST00000592462.5:n.2424C>T
NM_000419.3:c.2913C>T , LRG_479t1:c.2913C>T	NP_000410.2:p.Pro971=
XM_011524749.1:c.2842-219C>T	XP_011523051.1:n.2842-219C>T
XM_011524750.1:c.2913C>T	XP_011523052.1:p.Pro971=
NM_000419.4:c.2913C>T	NP_000410.2:p.Pro971=
NM_000419.5:c.2913C>T MANE Select	NP_000410.2:p.Pro971=