Canonical Allele Identifier: CA399790971

Gene: ITGA2B

Linked Data

• dbSNP Id: rs1467077965
• gnomAD v2: 17-42452090-C-T
• gnomAD v4: 17-44374722-C-T
• MyVariant Identifiers: chr17:g.42452090C>T (hg19) ; chr17:g.44374722C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44374722C>T , CM000679.2:g.44374722C>T	GRCh38
NC_000017.10:g.42452090C>T , CM000679.1:g.42452090C>T	GRCh37
NC_000017.9:g.39807616C>T	NCBI36
NG_008331.1:g.19784G>A , LRG_479:g.19784G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262407.6:c.2880G>A MANE Select	ENSP00000262407.5:p.Trp960Ter
ENST00000648408.1:c.2311G>A
ENST00000262407.5:c.2880G>A	ENSP00000262407.5:p.Trp960Ter
ENST00000587295.5:c.253+1111G>A
ENST00000592462.5:n.2391G>A
NM_000419.3:c.2880G>A , LRG_479t1:c.2880G>A	NP_000410.2:p.Trp960Ter
XM_011524749.1:c.2842-252G>A	XP_011523051.1:n.2842-252G>A
XM_011524750.1:c.2880G>A	XP_011523052.1:p.Trp960Ter
NM_000419.4:c.2880G>A	NP_000410.2:p.Trp960Ter
NM_000419.5:c.2880G>A MANE Select	NP_000410.2:p.Trp960Ter