Canonical Allele Identifier: CA394705880
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs199696775
gnomAD v4: 16-9763360-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9763360G>C , CM000678.2:g.9763360G>C GRCh38
NC_000016.9:g.9857217G>C , CM000678.1:g.9857217G>C GRCh37
NC_000016.8:g.9764718G>C NCBI36
NG_011812.1:g.424395C>G
NG_011812.2:g.424395C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.4184C>G MANE Select ENSP00000332549.3:p.Ala1395Gly
ENST00000535259.6:c.3370C>G ENSP00000441572.3:p.Arg1124Gly
ENST00000636273.2:n.3434C>G
ENST00000674742.1:c.3713C>G ENSP00000502200.1:p.Ala1238Gly
ENST00000675398.1:c.*1554C>G ENSP00000502752.1:n.*1554C>G
ENST00000330684.3:c.4184C>G ENSP00000332549.3:p.Ala1395Gly
ENST00000396573.6:c.4184C>G ENSP00000379818.2:p.Ala1395Gly
ENST00000396575.6:c.3773C>G ENSP00000379820.3:p.Ala1258Gly
ENST00000461292.3:n.3480C>G
ENST00000535259.5:c.3430C>G ENSP00000441572.2:p.Arg1144Gly
ENST00000562109.5:c.3841C>G ENSP00000454998.1:p.Arg1281Gly
NM_000833.4:c.4184C>G NP_000824.1:p.Ala1395Gly
NM_001134407.2:c.4184C>G NP_001127879.1:p.Ala1395Gly
NM_001134408.2:c.3841C>G NP_001127880.1:p.Arg1281Gly
XM_011522456.1:c.4025C>G XP_011520758.1:p.Ala1342Gly
XM_011522457.1:c.3926C>G XP_011520759.1:p.Ala1309Gly
XM_011522458.1:c.3713C>G XP_011520760.1:p.Ala1238Gly
XM_011522459.1:c.3713C>G XP_011520761.1:p.Ala1238Gly
XM_011522460.1:c.3713C>G XP_011520762.1:p.Ala1238Gly
XM_011522461.1:c.3841C>G XP_011520763.1:p.Arg1281Gly
XM_011522458.3:c.3713C>G XP_011520760.1:p.Ala1238Gly
XM_011522461.3:c.3841C>G XP_011520763.1:p.Arg1281Gly
XM_017023172.1:c.4340C>G XP_016878661.1:p.Ala1447Gly
XM_017023173.1:c.3997C>G XP_016878662.1:p.Arg1333Gly
NM_001134407.3:c.4184C>G MANE Select NP_001127879.1:p.Ala1395Gly
NM_000833.5:c.4184C>G NP_000824.1:p.Ala1395Gly