Canonical Allele Identifier: CA394709893

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 3007837
• ClinVar RCV Id: RCV003864436
• COSMIC: COSM1302382
• MyVariant Identifiers: chr16:g.9862756G>T (hg19) ; chr16:g.9768899G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9768899G>T , CM000678.2:g.9768899G>T	GRCh38
NC_000016.9:g.9862756G>T , CM000678.1:g.9862756G>T	GRCh37
NC_000016.8:g.9770257G>T	NCBI36
NG_011812.1:g.418856C>A
NG_011812.2:g.418856C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.2547C>A MANE Select	ENSP00000332549.3:p.Phe849Leu
ENST00000535259.6:c.2076C>A	ENSP00000441572.3:p.Phe692Leu
ENST00000636273.2:n.2140C>A
ENST00000674742.1:c.2076C>A	ENSP00000502200.1:p.Phe692Leu
ENST00000675398.1:c.2357-3951C>A	ENSP00000502752.1:n.2357-3951C>A
ENST00000330684.3:c.2547C>A	ENSP00000332549.3:p.Phe849Leu
ENST00000396573.6:c.2547C>A	ENSP00000379818.2:p.Phe849Leu
ENST00000396575.6:c.2136C>A	ENSP00000379820.3:p.Phe712Leu
ENST00000461292.3:n.2186C>A
ENST00000463531.1:n.330C>A
ENST00000535259.5:c.2136C>A	ENSP00000441572.2:p.Phe712Leu
ENST00000562109.5:c.2547C>A	ENSP00000454998.1:p.Phe849Leu
NM_000833.4:c.2547C>A	NP_000824.1:p.Phe849Leu
NM_001134407.2:c.2547C>A	NP_001127879.1:p.Phe849Leu
NM_001134408.2:c.2547C>A	NP_001127880.1:p.Phe849Leu
XM_011522456.1:c.2388C>A	XP_011520758.1:p.Phe796Leu
XM_011522457.1:c.2289C>A	XP_011520759.1:p.Phe763Leu
XM_011522458.1:c.2076C>A	XP_011520760.1:p.Phe692Leu
XM_011522459.1:c.2076C>A	XP_011520761.1:p.Phe692Leu
XM_011522460.1:c.2076C>A	XP_011520762.1:p.Phe692Leu
XM_011522461.1:c.2547C>A	XP_011520763.1:p.Phe849Leu
XM_011522458.3:c.2076C>A	XP_011520760.1:p.Phe692Leu
XM_011522461.3:c.2547C>A	XP_011520763.1:p.Phe849Leu
XM_017023172.1:c.2703C>A	XP_016878661.1:p.Phe901Leu
XM_017023173.1:c.2703C>A	XP_016878662.1:p.Phe901Leu
NM_001134407.3:c.2547C>A MANE Select	NP_001127879.1:p.Phe849Leu
NM_000833.5:c.2547C>A	NP_000824.1:p.Phe849Leu