Canonical Allele Identifier: CA394705884

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2751703
• ClinVar RCV Id: RCV003582865
• MyVariant Identifiers: chr16:g.9857218C>T (hg19) ; chr16:g.9763361C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763361C>T , CM000678.2:g.9763361C>T	GRCh38
NC_000016.9:g.9857218C>T , CM000678.1:g.9857218C>T	GRCh37
NC_000016.8:g.9764719C>T	NCBI36
NG_011812.1:g.424394G>A
NG_011812.2:g.424394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4183G>A MANE Select	ENSP00000332549.3:p.Ala1395Thr
ENST00000535259.6:c.3369G>A	ENSP00000441572.3:p.Arg1123=
ENST00000636273.2:n.3433G>A
ENST00000674742.1:c.3712G>A	ENSP00000502200.1:p.Ala1238Thr
ENST00000675398.1:c.*1553G>A	ENSP00000502752.1:n.*1553G>A
ENST00000330684.3:c.4183G>A	ENSP00000332549.3:p.Ala1395Thr
ENST00000396573.6:c.4183G>A	ENSP00000379818.2:p.Ala1395Thr
ENST00000396575.6:c.3772G>A	ENSP00000379820.3:p.Ala1258Thr
ENST00000461292.3:n.3479G>A
ENST00000535259.5:c.3429G>A	ENSP00000441572.2:p.Arg1143=
ENST00000562109.5:c.3840G>A	ENSP00000454998.1:p.Arg1280=
NM_000833.4:c.4183G>A	NP_000824.1:p.Ala1395Thr
NM_001134407.2:c.4183G>A	NP_001127879.1:p.Ala1395Thr
NM_001134408.2:c.3840G>A	NP_001127880.1:p.Arg1280=
XM_011522456.1:c.4024G>A	XP_011520758.1:p.Ala1342Thr
XM_011522457.1:c.3925G>A	XP_011520759.1:p.Ala1309Thr
XM_011522458.1:c.3712G>A	XP_011520760.1:p.Ala1238Thr
XM_011522459.1:c.3712G>A	XP_011520761.1:p.Ala1238Thr
XM_011522460.1:c.3712G>A	XP_011520762.1:p.Ala1238Thr
XM_011522461.1:c.3840G>A	XP_011520763.1:p.Arg1280=
XM_011522458.3:c.3712G>A	XP_011520760.1:p.Ala1238Thr
XM_011522461.3:c.3840G>A	XP_011520763.1:p.Arg1280=
XM_017023172.1:c.4339G>A	XP_016878661.1:p.Ala1447Thr
XM_017023173.1:c.3996G>A	XP_016878662.1:p.Arg1332=
NM_001134407.3:c.4183G>A MANE Select	NP_001127879.1:p.Ala1395Thr
NM_000833.5:c.4183G>A	NP_000824.1:p.Ala1395Thr