Canonical Allele Identifier: CA7896881
Gene: GRIN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2619757
ClinVar RCV Id: RCV003383206
dbSNP Id: rs772400474
gnomAD v3: 16-9938067-G-A
gnomAD v4: 16-9938067-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9938067G>A , CM000678.2:g.9938067G>A GRCh38
NC_000016.9:g.10031924G>A , CM000678.1:g.10031924G>A GRCh37
NC_000016.8:g.9939425G>A NCBI36
NG_011812.1:g.249688C>T
NG_011812.2:g.249688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.899C>T MANE Select ENSP00000332549.3:p.Thr300Ile
ENST00000535259.6:c.428C>T ENSP00000441572.3:p.Thr143Ile
ENST00000636273.2:n.492C>T
ENST00000637393.1:c.491C>T ENSP00000490232.1:p.Thr164Ile
ENST00000674742.1:c.428C>T ENSP00000502200.1:p.Thr143Ile
ENST00000675189.1:n.1383C>T
ENST00000675398.1:c.899C>T ENSP00000502752.1:p.Thr300Ile
ENST00000330684.3:c.899C>T ENSP00000332549.3:p.Thr300Ile
ENST00000396573.6:c.899C>T ENSP00000379818.2:p.Thr300Ile
ENST00000396575.6:c.488C>T ENSP00000379820.3:p.Thr163Ile
ENST00000461292.3:n.538C>T
ENST00000535259.5:c.488C>T ENSP00000441572.2:p.Thr163Ile
ENST00000562109.5:c.899C>T ENSP00000454998.1:p.Thr300Ile
ENST00000566683.1:n.241-46967C>T
ENST00000568247.3:n.791C>T
NM_000833.4:c.899C>T NP_000824.1:p.Thr300Ile
NM_001134407.2:c.899C>T NP_001127879.1:p.Thr300Ile
NM_001134408.2:c.899C>T NP_001127880.1:p.Thr300Ile
XM_011522456.1:c.740C>T XP_011520758.1:p.Thr247Ile
XM_011522457.1:c.641C>T XP_011520759.1:p.Thr214Ile
XM_011522458.1:c.428C>T XP_011520760.1:p.Thr143Ile
XM_011522459.1:c.428C>T XP_011520761.1:p.Thr143Ile
XM_011522460.1:c.428C>T XP_011520762.1:p.Thr143Ile
XM_011522461.1:c.899C>T XP_011520763.1:p.Thr300Ile
XM_011522458.3:c.428C>T XP_011520760.1:p.Thr143Ile
XM_011522461.3:c.899C>T XP_011520763.1:p.Thr300Ile
XM_017023172.1:c.1055C>T XP_016878661.1:p.Thr352Ile
XM_017023173.1:c.1055C>T XP_016878662.1:p.Thr352Ile
NM_001134407.3:c.899C>T MANE Select NP_001127879.1:p.Thr300Ile
NM_000833.5:c.899C>T NP_000824.1:p.Thr300Ile