Canonical Allele Identifier: CA358642964
Community Standard Title: NM_001083619.3(GRIA2):c.14T>C (p.Met5Thr)
Gene: GRIA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.157221056T>C , CM000666.2:g.157221056T>C GRCh38
NC_000004.11:g.158142208T>C , CM000666.1:g.158142208T>C GRCh37
NC_000004.10:g.158361658T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001083619.3:c.14T>C MANE Select NP_001077088.2:p.Met5Thr
ENST00000264426.14:c.14T>C MANE Select ENSP00000264426.9:p.Met5Thr
NM_000826.3:c.14T>C NP_000817.2:p.Met5Thr
NM_000826.4:c.14T>C NP_000817.3:p.Met5Thr
NM_000826.6:c.14T>C NP_000817.5:p.Met5Thr
NM_001083619.1:c.14T>C NP_001077088.1:p.Met5Thr
NM_001083620.1:c.-54+331T>C NP_001077089.1:n.-54+331T>C
NM_001083620.3:c.-54+331T>C NP_001077089.2:n.-54+331T>C
NM_001379000.3:c.-53-611T>C NP_001365929.3:n.-53-611T>C
NM_001379001.3:c.-53-611T>C NP_001365930.3:n.-53-611T>C
ENST00000264426.13:c.14T>C ENSP00000264426.9:p.Met5Thr
ENST00000296526.11:c.14T>C ENSP00000296526.7:p.Met5Thr
ENST00000296526.12:c.14T>C ENSP00000296526.7:p.Met5Thr
ENST00000393815.6:c.-54+331T>C ENSP00000377403.2:n.-54+331T>C
ENST00000471736.5:n.333T>C
ENST00000504801.1:n.254+16621T>C
ENST00000506284.5:c.-54+45T>C ENSP00000426513.1:n.-54+45T>C
ENST00000507898.5:c.-53-611T>C ENSP00000426845.1:n.-53-611T>C
ENST00000509417.5:c.14T>C ENSP00000425217.1:p.Met5Thr
ENST00000512774.5:c.14T>C ENSP00000423988.1:p.Met5Thr
ENST00000645636.1:c.14T>C ENSP00000495569.1:p.Met5Thr
ENST00000703717.1:c.-53-611T>C ENSP00000515446.1:n.-53-611T>C
ENST00000703718.1:c.14T>C ENSP00000515447.1:p.Met5Thr
ENST00000703750.1:c.-53-611T>C ENSP00000515459.1:n.-53-611T>C
ENST00000703751.1:c.14T>C ENSP00000515460.1:p.Met5Thr
ENST00000703752.1:c.-54+331T>C ENSP00000515461.1:n.-54+331T>C
ENST00000703753.1:c.14T>C ENSP00000515462.1:p.Met5Thr
ENST00000703754.1:c.-54+331T>C ENSP00000515463.1:n.-54+331T>C
ENST00000703755.1:c.14T>C ENSP00000515464.1:p.Met5Thr
ENST00000703756.1:c.14T>C ENSP00000515465.1:p.Met5Thr
ENST00000703757.1:c.14T>C ENSP00000515466.1:p.Met5Thr
ENST00000703758.1:n.339T>C
ENST00000703759.1:c.14T>C ENSP00000515467.1:p.Met5Thr
ENST00000703760.1:c.14T>C ENSP00000515468.1:p.Met5Thr
ENST00000703761.1:c.-54+45T>C ENSP00000515469.1:n.-54+45T>C
ENST00000703762.1:n.327T>C
ENST00000703763.1:c.14T>C ENSP00000515470.1:p.Met5Thr
ENST00000703764.1:c.-65+45T>C ENSP00000515471.1:n.-65+45T>C
XM_011531892.1:c.14T>C XP_011530194.1:p.Met5Thr
XR_001741212.2:n.434T>C
XR_938725.1:n.472T>C