Canonical Allele Identifier: CA394706548

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2992617
• ClinVar RCV Id: RCV003857728
• dbSNP Id: rs1900699130
• gnomAD v4: 16-9763618-C-T
• COSMIC: COSM1740244
• MyVariant Identifiers: chr16:g.9857475C>T (hg19) ; chr16:g.9763618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763618C>T , CM000678.2:g.9763618C>T	GRCh38
NC_000016.9:g.9857475C>T , CM000678.1:g.9857475C>T	GRCh37
NC_000016.8:g.9764976C>T	NCBI36
NG_011812.1:g.424137G>A
NG_011812.2:g.424137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3926G>A MANE Select	ENSP00000332549.3:p.Arg1309Gln
ENST00000535259.6:c.3301+154G>A	ENSP00000441572.3:n.3301+154G>A
ENST00000636273.2:n.3365+154G>A
ENST00000674742.1:c.3455G>A	ENSP00000502200.1:p.Arg1152Gln
ENST00000675398.1:c.*1296G>A	ENSP00000502752.1:n.*1296G>A
ENST00000330684.3:c.3926G>A	ENSP00000332549.3:p.Arg1309Gln
ENST00000396573.6:c.3926G>A	ENSP00000379818.2:p.Arg1309Gln
ENST00000396575.6:c.3515G>A	ENSP00000379820.3:p.Arg1172Gln
ENST00000461292.3:n.3411+154G>A
ENST00000535259.5:c.3361+154G>A	ENSP00000441572.2:n.3361+154G>A
ENST00000562109.5:c.3772+154G>A	ENSP00000454998.1:n.3772+154G>A
NM_000833.4:c.3926G>A	NP_000824.1:p.Arg1309Gln
NM_001134407.2:c.3926G>A	NP_001127879.1:p.Arg1309Gln
NM_001134408.2:c.3772+154G>A	NP_001127880.1:n.3772+154G>A
XM_011522456.1:c.3767G>A	XP_011520758.1:p.Arg1256Gln
XM_011522457.1:c.3668G>A	XP_011520759.1:p.Arg1223Gln
XM_011522458.1:c.3455G>A	XP_011520760.1:p.Arg1152Gln
XM_011522459.1:c.3455G>A	XP_011520761.1:p.Arg1152Gln
XM_011522460.1:c.3455G>A	XP_011520762.1:p.Arg1152Gln
XM_011522461.1:c.3772+154G>A	XP_011520763.1:n.3772+154G>A
XM_011522458.3:c.3455G>A	XP_011520760.1:p.Arg1152Gln
XM_011522461.3:c.3772+154G>A	XP_011520763.1:n.3772+154G>A
XM_017023172.1:c.4082G>A	XP_016878661.1:p.Arg1361Gln
XM_017023173.1:c.3928+154G>A	XP_016878662.1:n.3928+154G>A
NM_001134407.3:c.3926G>A MANE Select	NP_001127879.1:p.Arg1309Gln
NM_000833.5:c.3926G>A	NP_000824.1:p.Arg1309Gln