Canonical Allele Identifier: CA493683173

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1658888
• ClinVar RCV Id: RCV002174416
• dbSNP Id: rs1331462860
• gnomAD v2: 16-10031953-C-T
• gnomAD v3: 16-9938096-C-T
• gnomAD v4: 16-9938096-C-T
• MyVariant Identifiers: chr16:g.10031953C>T (hg19) ; chr16:g.9938096C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938096C>T , CM000678.2:g.9938096C>T	GRCh38
NC_000016.9:g.10031953C>T , CM000678.1:g.10031953C>T	GRCh37
NC_000016.8:g.9939454C>T	NCBI36
NG_011812.1:g.249659G>A
NG_011812.2:g.249659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.870G>A MANE Select	ENSP00000332549.3:p.Ala290=
ENST00000535259.6:c.399G>A	ENSP00000441572.3:p.Ala133=
ENST00000636273.2:n.463G>A
ENST00000637393.1:c.462G>A	ENSP00000490232.1:p.Ala154=
ENST00000674742.1:c.399G>A	ENSP00000502200.1:p.Ala133=
ENST00000675189.1:n.1354G>A
ENST00000675398.1:c.870G>A	ENSP00000502752.1:p.Ala290=
ENST00000330684.3:c.870G>A	ENSP00000332549.3:p.Ala290=
ENST00000396573.6:c.870G>A	ENSP00000379818.2:p.Ala290=
ENST00000396575.6:c.459G>A	ENSP00000379820.3:p.Ala153=
ENST00000461292.3:n.509G>A
ENST00000535259.5:c.459G>A	ENSP00000441572.2:p.Ala153=
ENST00000562109.5:c.870G>A	ENSP00000454998.1:p.Ala290=
ENST00000566683.1:n.241-46996G>A
ENST00000568247.3:n.762G>A
NM_000833.4:c.870G>A	NP_000824.1:p.Ala290=
NM_001134407.2:c.870G>A	NP_001127879.1:p.Ala290=
NM_001134408.2:c.870G>A	NP_001127880.1:p.Ala290=
XM_011522456.1:c.711G>A	XP_011520758.1:p.Ala237=
XM_011522457.1:c.612G>A	XP_011520759.1:p.Ala204=
XM_011522458.1:c.399G>A	XP_011520760.1:p.Ala133=
XM_011522459.1:c.399G>A	XP_011520761.1:p.Ala133=
XM_011522460.1:c.399G>A	XP_011520762.1:p.Ala133=
XM_011522461.1:c.870G>A	XP_011520763.1:p.Ala290=
XM_011522458.3:c.399G>A	XP_011520760.1:p.Ala133=
XM_011522461.3:c.870G>A	XP_011520763.1:p.Ala290=
XM_017023172.1:c.1026G>A	XP_016878661.1:p.Ala342=
XM_017023173.1:c.1026G>A	XP_016878662.1:p.Ala342=
NM_001134407.3:c.870G>A MANE Select	NP_001127879.1:p.Ala290=
NM_000833.5:c.870G>A	NP_000824.1:p.Ala290=