Canonical Allele Identifier: CA500262516

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1158893050
• gnomAD v2: 17-42452045-C-T
• MyVariant Identifiers: chr17:g.42452045C>T (hg19) ; chr17:g.44374677C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374677C>T , CM000679.2:g.44374677C>T	GRCh38
NC_000017.10:g.42452045C>T , CM000679.1:g.42452045C>T	GRCh37
NC_000017.9:g.39807571C>T	NCBI36
NG_008331.1:g.19829G>A , LRG_479:g.19829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2925G>A MANE Select	ENSP00000262407.5:p.Leu975=
ENST00000648408.1:c.2356G>A
ENST00000262407.5:c.2925G>A	ENSP00000262407.5:p.Leu975=
ENST00000587295.5:c.253+1156G>A
ENST00000588098.1:c.19G>A
ENST00000592462.5:n.2436G>A
NM_000419.3:c.2925G>A , LRG_479t1:c.2925G>A	NP_000410.2:p.Leu975=
XM_011524749.1:c.2842-207G>A	XP_011523051.1:n.2842-207G>A
XM_011524750.1:c.2925G>A	XP_011523052.1:p.Leu975=
NM_000419.4:c.2925G>A	NP_000410.2:p.Leu975=
NM_000419.5:c.2925G>A MANE Select	NP_000410.2:p.Leu975=