Canonical Allele Identifier: CA399790399
Gene: ITGA2B HGNC NCBI

Linked Data

ClinVar Variation Id: 2498349
ClinVar RCV Id: RCV003222558
MyVariant Identifiers: chr17:g.42452029G>A (hg19) chr17:g.44374661G>A (hg38)
ERepo: CA399790399/MONDO:0100326/011
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44374661G>A , CM000679.2:g.44374661G>A GRCh38
NC_000017.10:g.42452029G>A , CM000679.1:g.42452029G>A GRCh37
NC_000017.9:g.39807555G>A NCBI36
NG_008331.1:g.19845C>T , LRG_479:g.19845C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262407.6:c.2941C>T MANE Select ENSP00000262407.5:p.Gln981Ter
ENST00000648408.1:c.2372C>T
ENST00000262407.5:c.2941C>T ENSP00000262407.5:p.Gln981Ter
ENST00000587295.5:c.253+1172C>T
ENST00000588098.1:c.35C>T
ENST00000592462.5:n.2452C>T
NM_000419.3:c.2941C>T , LRG_479t1:c.2941C>T NP_000410.2:p.Gln981Ter
XM_011524749.1:c.2842-191C>T XP_011523051.1:n.2842-191C>T
XM_011524750.1:c.2941C>T XP_011523052.1:p.Gln981Ter
NM_000419.4:c.2941C>T NP_000410.2:p.Gln981Ter
NM_000419.5:c.2941C>T MANE Select NP_000410.2:p.Gln981Ter
Search 100 bp 5'
Search 100 bp 3'