Canonical Allele Identifier: CA394706371
Gene: GRIN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1878668
ClinVar RCV Id: RCV002510759
dbSNP Id: rs1900693709
gnomAD v4: 16-9763538-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9763538G>A , CM000678.2:g.9763538G>A GRCh38
NC_000016.9:g.9857395G>A , CM000678.1:g.9857395G>A GRCh37
NC_000016.8:g.9764896G>A NCBI36
NG_011812.1:g.424217C>T
NG_011812.2:g.424217C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.4006C>T MANE Select ENSP00000332549.3:p.Leu1336Phe
ENST00000535259.6:c.3302-110C>T ENSP00000441572.3:n.3302-110C>T
ENST00000636273.2:n.3366-110C>T
ENST00000674742.1:c.3535C>T ENSP00000502200.1:p.Leu1179Phe
ENST00000675398.1:c.*1376C>T ENSP00000502752.1:n.*1376C>T
ENST00000330684.3:c.4006C>T ENSP00000332549.3:p.Leu1336Phe
ENST00000396573.6:c.4006C>T ENSP00000379818.2:p.Leu1336Phe
ENST00000396575.6:c.3595C>T ENSP00000379820.3:p.Leu1199Phe
ENST00000461292.3:n.3412-110C>T
ENST00000535259.5:c.3362-110C>T ENSP00000441572.2:n.3362-110C>T
ENST00000562109.5:c.3773-110C>T ENSP00000454998.1:n.3773-110C>T
NM_000833.4:c.4006C>T NP_000824.1:p.Leu1336Phe
NM_001134407.2:c.4006C>T NP_001127879.1:p.Leu1336Phe
NM_001134408.2:c.3773-110C>T NP_001127880.1:n.3773-110C>T
XM_011522456.1:c.3847C>T XP_011520758.1:p.Leu1283Phe
XM_011522457.1:c.3748C>T XP_011520759.1:p.Leu1250Phe
XM_011522458.1:c.3535C>T XP_011520760.1:p.Leu1179Phe
XM_011522459.1:c.3535C>T XP_011520761.1:p.Leu1179Phe
XM_011522460.1:c.3535C>T XP_011520762.1:p.Leu1179Phe
XM_011522461.1:c.3773-110C>T XP_011520763.1:n.3773-110C>T
XM_011522458.3:c.3535C>T XP_011520760.1:p.Leu1179Phe
XM_011522461.3:c.3773-110C>T XP_011520763.1:n.3773-110C>T
XM_017023172.1:c.4162C>T XP_016878661.1:p.Leu1388Phe
XM_017023173.1:c.3929-110C>T XP_016878662.1:n.3929-110C>T
NM_001134407.3:c.4006C>T MANE Select NP_001127879.1:p.Leu1336Phe
NM_000833.5:c.4006C>T NP_000824.1:p.Leu1336Phe