Canonical Allele Identifier: CA358648968
Community Standard Title: NM_001083619.3(GRIA2):c.1948A>G (p.Met650Val)
Gene: GRIA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.157341367A>G , CM000666.2:g.157341367A>G GRCh38
NC_000004.11:g.158262519A>G , CM000666.1:g.158262519A>G GRCh37
NC_000004.10:g.158481969A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001083619.3:c.1948A>G MANE Select NP_001077088.2:p.Met650Val
ENST00000264426.14:c.1948A>G MANE Select ENSP00000264426.9:p.Met650Val
NM_000826.3:c.1948A>G NP_000817.2:p.Met650Val
NM_000826.4:c.1948A>G NP_000817.3:p.Met650Val
NM_000826.6:c.1948A>G NP_000817.5:p.Met650Val
NM_001083619.1:c.1948A>G NP_001077088.1:p.Met650Val
NM_001083620.1:c.1807A>G NP_001077089.1:p.Met603Val
NM_001083620.3:c.1807A>G NP_001077089.2:p.Met603Val
NM_001379000.3:c.1807A>G NP_001365929.3:p.Met603Val
NM_001379001.3:c.1807A>G NP_001365930.3:p.Met603Val
ENST00000264426.13:c.1948A>G ENSP00000264426.9:p.Met650Val
ENST00000296526.11:c.1948A>G ENSP00000296526.7:p.Met650Val
ENST00000296526.12:c.1948A>G ENSP00000296526.7:p.Met650Val
ENST00000323661.10:c.1807A>G ENSP00000318144.6:p.Met603Val
ENST00000393815.6:c.1807A>G ENSP00000377403.2:p.Met603Val
ENST00000471736.5:n.3817A>G
ENST00000507898.5:c.1807A>G ENSP00000426845.1:p.Met603Val
ENST00000645636.1:c.1948A>G ENSP00000495569.1:p.Met650Val
ENST00000703717.1:c.1807A>G ENSP00000515446.1:p.Met603Val
ENST00000703718.1:c.1708A>G ENSP00000515447.1:p.Met570Val
ENST00000703719.1:c.1515A>G
ENST00000703750.1:c.*708A>G ENSP00000515459.1:n.*708A>G
ENST00000703751.1:c.1948A>G ENSP00000515460.1:p.Met650Val
ENST00000703752.1:c.1807A>G ENSP00000515461.1:p.Met603Val
ENST00000703753.1:c.*29A>G ENSP00000515462.1:n.*29A>G
ENST00000703754.1:c.1807A>G ENSP00000515463.1:p.Met603Val
ENST00000703755.1:c.*138A>G ENSP00000515464.1:n.*138A>G
ENST00000703756.1:c.*234A>G ENSP00000515465.1:n.*234A>G
ENST00000703758.1:n.2273A>G
ENST00000703759.1:c.1948A>G ENSP00000515467.1:p.Met650Val
ENST00000703760.1:c.1975A>G ENSP00000515468.1:p.Met659Val
ENST00000703761.1:c.526-22068A>G ENSP00000515469.1:n.526-22068A>G
ENST00000703762.1:n.2760A>G
ENST00000703763.1:c.1266+7247A>G ENSP00000515470.1:n.1266+7247A>G
ENST00000703765.1:c.1807A>G ENSP00000515472.1:p.Met603Val
ENST00000703766.1:c.1634A>G
ENST00000703767.1:c.1567A>G ENSP00000515474.1:p.Met523Val
ENST00000703768.1:c.930A>G
ENST00000703769.1:c.883A>G ENSP00000515476.1:p.Met295Val
ENST00000703770.1:n.327A>G
XM_011531892.1:c.1948A>G XP_011530194.1:p.Met650Val
XR_001741212.2:n.2368A>G
XR_938725.1:n.2406A>G