Canonical Allele Identifier: CA7896206
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs769095466
gnomAD v2: 16-9857256-C-T
gnomAD v3: 16-9763399-C-T
gnomAD v4: 16-9763399-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9763399C>T , CM000678.2:g.9763399C>T GRCh38
NC_000016.9:g.9857256C>T , CM000678.1:g.9857256C>T GRCh37
NC_000016.8:g.9764757C>T NCBI36
NG_011812.1:g.424356G>A
NG_011812.2:g.424356G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.4145G>A MANE Select ENSP00000332549.3:p.Cys1382Tyr
ENST00000535259.6:c.3331G>A ENSP00000441572.3:p.Ala1111Thr
ENST00000636273.2:n.3395G>A
ENST00000674742.1:c.3674G>A ENSP00000502200.1:p.Cys1225Tyr
ENST00000675398.1:c.*1515G>A ENSP00000502752.1:n.*1515G>A
ENST00000330684.3:c.4145G>A ENSP00000332549.3:p.Cys1382Tyr
ENST00000396573.6:c.4145G>A ENSP00000379818.2:p.Cys1382Tyr
ENST00000396575.6:c.3734G>A ENSP00000379820.3:p.Cys1245Tyr
ENST00000461292.3:n.3441G>A
ENST00000535259.5:c.3391G>A ENSP00000441572.2:p.Ala1131Thr
ENST00000562109.5:c.3802G>A ENSP00000454998.1:p.Ala1268Thr
NM_000833.4:c.4145G>A NP_000824.1:p.Cys1382Tyr
NM_001134407.2:c.4145G>A NP_001127879.1:p.Cys1382Tyr
NM_001134408.2:c.3802G>A NP_001127880.1:p.Ala1268Thr
XM_011522456.1:c.3986G>A XP_011520758.1:p.Cys1329Tyr
XM_011522457.1:c.3887G>A XP_011520759.1:p.Cys1296Tyr
XM_011522458.1:c.3674G>A XP_011520760.1:p.Cys1225Tyr
XM_011522459.1:c.3674G>A XP_011520761.1:p.Cys1225Tyr
XM_011522460.1:c.3674G>A XP_011520762.1:p.Cys1225Tyr
XM_011522461.1:c.3802G>A XP_011520763.1:p.Ala1268Thr
XM_011522458.3:c.3674G>A XP_011520760.1:p.Cys1225Tyr
XM_011522461.3:c.3802G>A XP_011520763.1:p.Ala1268Thr
XM_017023172.1:c.4301G>A XP_016878661.1:p.Cys1434Tyr
XM_017023173.1:c.3958G>A XP_016878662.1:p.Ala1320Thr
NM_001134407.3:c.4145G>A MANE Select NP_001127879.1:p.Cys1382Tyr
NM_000833.5:c.4145G>A NP_000824.1:p.Cys1382Tyr