Canonical Allele Identifier: CA354186
Gene: GRIN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 224108
ClinVar RCV Id: RCV000209878
dbSNP Id: rs869312681

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9763169T>C , CM000678.2:g.9763169T>C GRCh38
NC_000016.9:g.9857026T>C , CM000678.1:g.9857026T>C GRCh37
NC_000016.8:g.9764527T>C NCBI36
NG_011812.1:g.424586A>G
NG_011812.2:g.424586A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000330684.4:c.4375A>G MANE Select ENSP00000332549.3:p.Ser1459Gly
ENST00000535259.6:c.*186A>G ENSP00000441572.3:n.*186A>G
ENST00000636273.2:n.3625A>G
ENST00000674742.1:c.3904A>G ENSP00000502200.1:p.Ser1302Gly
ENST00000675398.1:c.*1745A>G ENSP00000502752.1:n.*1745A>G
ENST00000330684.3:c.4375A>G ENSP00000332549.3:p.Ser1459Gly
ENST00000396573.6:c.4375A>G ENSP00000379818.2:p.Ser1459Gly
ENST00000396575.6:c.3964A>G ENSP00000379820.3:p.Ser1322Gly
ENST00000461292.3:n.3671A>G
ENST00000535259.5:c.*186A>G ENSP00000441572.2:n.*186A>G
ENST00000562109.5:c.*186A>G ENSP00000454998.1:n.*186A>G
NM_000833.4:c.4375A>G NP_000824.1:p.Ser1459Gly
NM_001134407.2:c.4375A>G NP_001127879.1:p.Ser1459Gly
NM_001134408.2:c.*186A>G NP_001127880.1:n.*186A>G
XM_011522456.1:c.4216A>G XP_011520758.1:p.Ser1406Gly
XM_011522457.1:c.4117A>G XP_011520759.1:p.Ser1373Gly
XM_011522458.1:c.3904A>G XP_011520760.1:p.Ser1302Gly
XM_011522459.1:c.3904A>G XP_011520761.1:p.Ser1302Gly
XM_011522460.1:c.3904A>G XP_011520762.1:p.Ser1302Gly
XM_011522461.1:c.*186A>G XP_011520763.1:n.*186A>G
XM_011522458.3:c.3904A>G XP_011520760.1:p.Ser1302Gly
XM_011522461.3:c.*186A>G XP_011520763.1:n.*186A>G
XM_017023172.1:c.4531A>G XP_016878661.1:p.Ser1511Gly
XM_017023173.1:c.*186A>G XP_016878662.1:n.*186A>G
NM_001134407.3:c.4375A>G MANE Select NP_001127879.1:p.Ser1459Gly
NM_000833.5:c.4375A>G NP_000824.1:p.Ser1459Gly