Canonical Allele Identifier: CA7896229

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 464062
• ClinVar RCV Id: RCV000546826
• dbSNP Id: rs149745535
• ExAC: 16:9857448 C / T
• gnomAD v2: 16-9857448-C-T
• gnomAD v3: 16-9763591-C-T
• gnomAD v4: 16-9763591-C-T
• COSMIC: COSM3402558
• MyVariant Identifiers: chr16:g.9857448C>T (hg19) ; chr16:g.9763591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763591C>T , CM000678.2:g.9763591C>T	GRCh38
NC_000016.9:g.9857448C>T , CM000678.1:g.9857448C>T	GRCh37
NC_000016.8:g.9764949C>T	NCBI36
NG_011812.1:g.424164G>A
NG_011812.2:g.424164G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3953G>A MANE Select	ENSP00000332549.3:p.Arg1318Gln
ENST00000535259.6:c.3302-163G>A	ENSP00000441572.3:n.3302-163G>A
ENST00000636273.2:n.3366-163G>A
ENST00000674742.1:c.3482G>A	ENSP00000502200.1:p.Arg1161Gln
ENST00000675398.1:c.*1323G>A	ENSP00000502752.1:n.*1323G>A
ENST00000330684.3:c.3953G>A	ENSP00000332549.3:p.Arg1318Gln
ENST00000396573.6:c.3953G>A	ENSP00000379818.2:p.Arg1318Gln
ENST00000396575.6:c.3542G>A	ENSP00000379820.3:p.Arg1181Gln
ENST00000461292.3:n.3412-163G>A
ENST00000535259.5:c.3362-163G>A	ENSP00000441572.2:n.3362-163G>A
ENST00000562109.5:c.3773-163G>A	ENSP00000454998.1:n.3773-163G>A
NM_000833.4:c.3953G>A	NP_000824.1:p.Arg1318Gln
NM_001134407.2:c.3953G>A	NP_001127879.1:p.Arg1318Gln
NM_001134408.2:c.3773-163G>A	NP_001127880.1:n.3773-163G>A
XM_011522456.1:c.3794G>A	XP_011520758.1:p.Arg1265Gln
XM_011522457.1:c.3695G>A	XP_011520759.1:p.Arg1232Gln
XM_011522458.1:c.3482G>A	XP_011520760.1:p.Arg1161Gln
XM_011522459.1:c.3482G>A	XP_011520761.1:p.Arg1161Gln
XM_011522460.1:c.3482G>A	XP_011520762.1:p.Arg1161Gln
XM_011522461.1:c.3773-163G>A	XP_011520763.1:n.3773-163G>A
XM_011522458.3:c.3482G>A	XP_011520760.1:p.Arg1161Gln
XM_011522461.3:c.3773-163G>A	XP_011520763.1:n.3773-163G>A
XM_017023172.1:c.4109G>A	XP_016878661.1:p.Arg1370Gln
XM_017023173.1:c.3929-163G>A	XP_016878662.1:n.3929-163G>A
NM_001134407.3:c.3953G>A MANE Select	NP_001127879.1:p.Arg1318Gln
NM_000833.5:c.3953G>A	NP_000824.1:p.Arg1318Gln