Canonical Allele Identifier: CA7896209
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs770477737
gnomAD v2: 16-9857264-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9763407A>G , CM000678.2:g.9763407A>G GRCh38
NC_000016.9:g.9857264A>G , CM000678.1:g.9857264A>G GRCh37
NC_000016.8:g.9764765A>G NCBI36
NG_011812.1:g.424348T>C
NG_011812.2:g.424348T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.4137T>C MANE Select ENSP00000332549.3:p.Ile1379=
ENST00000535259.6:c.3323T>C ENSP00000441572.3:p.Leu1108Ser
ENST00000636273.2:n.3387T>C
ENST00000674742.1:c.3666T>C ENSP00000502200.1:p.Ile1222=
ENST00000675398.1:c.*1507T>C ENSP00000502752.1:n.*1507T>C
ENST00000330684.3:c.4137T>C ENSP00000332549.3:p.Ile1379=
ENST00000396573.6:c.4137T>C ENSP00000379818.2:p.Ile1379=
ENST00000396575.6:c.3726T>C ENSP00000379820.3:p.Ile1242=
ENST00000461292.3:n.3433T>C
ENST00000535259.5:c.3383T>C ENSP00000441572.2:p.Leu1128Ser
ENST00000562109.5:c.3794T>C ENSP00000454998.1:p.Leu1265Ser
NM_000833.4:c.4137T>C NP_000824.1:p.Ile1379=
NM_001134407.2:c.4137T>C NP_001127879.1:p.Ile1379=
NM_001134408.2:c.3794T>C NP_001127880.1:p.Leu1265Ser
XM_011522456.1:c.3978T>C XP_011520758.1:p.Ile1326=
XM_011522457.1:c.3879T>C XP_011520759.1:p.Ile1293=
XM_011522458.1:c.3666T>C XP_011520760.1:p.Ile1222=
XM_011522459.1:c.3666T>C XP_011520761.1:p.Ile1222=
XM_011522460.1:c.3666T>C XP_011520762.1:p.Ile1222=
XM_011522461.1:c.3794T>C XP_011520763.1:p.Leu1265Ser
XM_011522458.3:c.3666T>C XP_011520760.1:p.Ile1222=
XM_011522461.3:c.3794T>C XP_011520763.1:p.Leu1265Ser
XM_017023172.1:c.4293T>C XP_016878661.1:p.Ile1431=
XM_017023173.1:c.3950T>C XP_016878662.1:p.Leu1317Ser
NM_001134407.3:c.4137T>C MANE Select NP_001127879.1:p.Ile1379=
NM_000833.5:c.4137T>C NP_000824.1:p.Ile1379=