Canonical Allele Identifier: CA493682961
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs1292646685
gnomAD v3: 16-9938021-C-T
gnomAD v4: 16-9938021-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9938021C>T , CM000678.2:g.9938021C>T GRCh38
NC_000016.9:g.10031878C>T , CM000678.1:g.10031878C>T GRCh37
NC_000016.8:g.9939379C>T NCBI36
NG_011812.1:g.249734G>A
NG_011812.2:g.249734G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.945G>A MANE Select ENSP00000332549.3:p.Glu315=
ENST00000535259.6:c.474G>A ENSP00000441572.3:p.Glu158=
ENST00000636273.2:n.538G>A
ENST00000637393.1:c.537G>A ENSP00000490232.1:p.Glu179=
ENST00000674742.1:c.474G>A ENSP00000502200.1:p.Glu158=
ENST00000675189.1:n.1429G>A
ENST00000675398.1:c.945G>A ENSP00000502752.1:p.Glu315=
ENST00000330684.3:c.945G>A ENSP00000332549.3:p.Glu315=
ENST00000396573.6:c.945G>A ENSP00000379818.2:p.Glu315=
ENST00000396575.6:c.534G>A ENSP00000379820.3:p.Glu178=
ENST00000461292.3:n.584G>A
ENST00000535259.5:c.534G>A ENSP00000441572.2:p.Glu178=
ENST00000562109.5:c.945G>A ENSP00000454998.1:p.Glu315=
ENST00000566683.1:n.241-46921G>A
ENST00000568247.3:n.837G>A
NM_000833.4:c.945G>A NP_000824.1:p.Glu315=
NM_001134407.2:c.945G>A NP_001127879.1:p.Glu315=
NM_001134408.2:c.945G>A NP_001127880.1:p.Glu315=
XM_011522456.1:c.786G>A XP_011520758.1:p.Glu262=
XM_011522457.1:c.687G>A XP_011520759.1:p.Glu229=
XM_011522458.1:c.474G>A XP_011520760.1:p.Glu158=
XM_011522459.1:c.474G>A XP_011520761.1:p.Glu158=
XM_011522460.1:c.474G>A XP_011520762.1:p.Glu158=
XM_011522461.1:c.945G>A XP_011520763.1:p.Glu315=
XM_011522458.3:c.474G>A XP_011520760.1:p.Glu158=
XM_011522461.3:c.945G>A XP_011520763.1:p.Glu315=
XM_017023172.1:c.1101G>A XP_016878661.1:p.Glu367=
XM_017023173.1:c.1101G>A XP_016878662.1:p.Glu367=
NM_001134407.3:c.945G>A MANE Select NP_001127879.1:p.Glu315=
NM_000833.5:c.945G>A NP_000824.1:p.Glu315=