Canonical Allele Identifier: CA2739270334
Community Standard Title: NM_001083619.3(GRIA2):c.2263dup (p.Ile755AsnfsTer5)
Gene: GRIA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.157360115dup , CM000666.2:g.157360115dup GRCh38
NC_000004.11:g.158281267dup , CM000666.1:g.158281267dup GRCh37
NC_000004.10:g.158500717dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001083619.3:c.2263dup MANE Select NP_001077088.2:p.Ile755AsnfsTer5
ENST00000264426.14:c.2263dup MANE Select ENSP00000264426.9:p.Ile755AsnfsTer5
NM_000826.3:c.2263dup NP_000817.2:p.Ile755AsnfsTer5
NM_000826.4:c.2263dup NP_000817.3:p.Ile755AsnfsTer5
NM_000826.6:c.2263dup NP_000817.5:p.Ile755AsnfsTer5
NM_001083619.1:c.2263dup NP_001077088.1:p.Ile755AsnfsTer5
NM_001083620.1:c.2122dup NP_001077089.1:p.Ile708AsnfsTer5
NM_001083620.3:c.2122dup NP_001077089.2:p.Ile708AsnfsTer5
NM_001379000.3:c.2122dup NP_001365929.3:p.Ile708AsnfsTer5
NM_001379001.3:c.2122dup NP_001365930.3:p.Ile708AsnfsTer5
ENST00000264426.13:c.2263dup ENSP00000264426.9:p.Ile755AsnfsTer5
ENST00000296526.11:c.2263dup ENSP00000296526.7:p.Ile755AsnfsTer5
ENST00000296526.12:c.2263dup ENSP00000296526.7:p.Ile755AsnfsTer5
ENST00000323661.10:c.2122dup ENSP00000318144.6:p.Ile708AsnfsTer5
ENST00000393815.6:c.2122dup ENSP00000377403.2:p.Ile708AsnfsTer5
ENST00000471736.5:n.4132dup
ENST00000507898.5:c.2122dup ENSP00000426845.1:p.Ile708AsnfsTer5
ENST00000510854.1:c.254dup
ENST00000645636.1:c.2263dup ENSP00000495569.1:p.Ile755AsnfsTer5
ENST00000703717.1:c.2122dup ENSP00000515446.1:p.Ile708AsnfsTer5
ENST00000703718.1:c.2023dup ENSP00000515447.1:p.Ile675AsnfsTer5
ENST00000703719.1:c.1830dup
ENST00000703750.1:c.*1023dup ENSP00000515459.1:n.*1023dup
ENST00000703751.1:c.2263dup ENSP00000515460.1:p.Ile755AsnfsTer5
ENST00000703752.1:c.2122dup ENSP00000515461.1:p.Ile708AsnfsTer5
ENST00000703753.1:c.*344dup ENSP00000515462.1:n.*344dup
ENST00000703754.1:c.2122dup ENSP00000515463.1:p.Ile708AsnfsTer5
ENST00000703755.1:c.*453dup ENSP00000515464.1:n.*453dup
ENST00000703756.1:c.*549dup ENSP00000515465.1:n.*549dup
ENST00000703758.1:n.2588dup
ENST00000703759.1:c.2263dup ENSP00000515467.1:p.Ile755AsnfsTer5
ENST00000703760.1:c.2290dup ENSP00000515468.1:p.Ile764AsnfsTer5
ENST00000703761.1:c.526-3320dup ENSP00000515469.1:n.526-3320dup
ENST00000703762.1:n.3075dup
ENST00000703763.1:c.1267-3320dup ENSP00000515470.1:n.1267-3320dup
ENST00000703765.1:c.2122dup ENSP00000515472.1:p.Ile708AsnfsTer5
ENST00000703766.1:c.1949dup
ENST00000703767.1:c.1882dup ENSP00000515474.1:p.Ile628AsnfsTer5
ENST00000703768.1:c.1245dup
ENST00000703769.1:c.1198dup ENSP00000515476.1:p.Ile400AsnfsTer5
ENST00000703770.1:n.642dup
XM_011531892.1:c.2263dup XP_011530194.1:p.Ile755AsnfsTer5
XR_001741212.2:n.2683dup
XR_938725.1:n.2721dup