Canonical Allele Identifier: CA7896236

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1010982
• ClinVar RCV Id: RCV001308713 ; RCV002322214
• dbSNP Id: rs199830697
• ExAC: 16:9857486 G / C
• gnomAD v2: 16-9857486-G-C
• gnomAD v4: 16-9763629-G-C
• MyVariant Identifiers: chr16:g.9857486G>C (hg19) ; chr16:g.9763629G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763629G>C , CM000678.2:g.9763629G>C	GRCh38
NC_000016.9:g.9857486G>C , CM000678.1:g.9857486G>C	GRCh37
NC_000016.8:g.9764987G>C	NCBI36
NG_011812.1:g.424126C>G
NG_011812.2:g.424126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3915C>G MANE Select	ENSP00000332549.3:p.Ser1305Arg
ENST00000535259.6:c.3301+143C>G	ENSP00000441572.3:n.3301+143C>G
ENST00000636273.2:n.3365+143C>G
ENST00000674742.1:c.3444C>G	ENSP00000502200.1:p.Ser1148Arg
ENST00000675398.1:c.*1285C>G	ENSP00000502752.1:n.*1285C>G
ENST00000330684.3:c.3915C>G	ENSP00000332549.3:p.Ser1305Arg
ENST00000396573.6:c.3915C>G	ENSP00000379818.2:p.Ser1305Arg
ENST00000396575.6:c.3504C>G	ENSP00000379820.3:p.Ser1168Arg
ENST00000461292.3:n.3411+143C>G
ENST00000535259.5:c.3361+143C>G	ENSP00000441572.2:n.3361+143C>G
ENST00000562109.5:c.3772+143C>G	ENSP00000454998.1:n.3772+143C>G
NM_000833.4:c.3915C>G	NP_000824.1:p.Ser1305Arg
NM_001134407.2:c.3915C>G	NP_001127879.1:p.Ser1305Arg
NM_001134408.2:c.3772+143C>G	NP_001127880.1:n.3772+143C>G
XM_011522456.1:c.3756C>G	XP_011520758.1:p.Ser1252Arg
XM_011522457.1:c.3657C>G	XP_011520759.1:p.Ser1219Arg
XM_011522458.1:c.3444C>G	XP_011520760.1:p.Ser1148Arg
XM_011522459.1:c.3444C>G	XP_011520761.1:p.Ser1148Arg
XM_011522460.1:c.3444C>G	XP_011520762.1:p.Ser1148Arg
XM_011522461.1:c.3772+143C>G	XP_011520763.1:n.3772+143C>G
XM_011522458.3:c.3444C>G	XP_011520760.1:p.Ser1148Arg
XM_011522461.3:c.3772+143C>G	XP_011520763.1:n.3772+143C>G
XM_017023172.1:c.4071C>G	XP_016878661.1:p.Ser1357Arg
XM_017023173.1:c.3928+143C>G	XP_016878662.1:n.3928+143C>G
NM_001134407.3:c.3915C>G MANE Select	NP_001127879.1:p.Ser1305Arg
NM_000833.5:c.3915C>G	NP_000824.1:p.Ser1305Arg