Canonical Allele Identifier: CA7896199

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 580884
• ClinVar RCV Id: RCV000704555 ; RCV001412212 ; RCV002536386
• dbSNP Id: rs74935155
• ExAC: 16:9857196 C / T
• gnomAD v2: 16-9857196-C-T
• gnomAD v3: 16-9763339-C-T
• gnomAD v4: 16-9763339-C-T
• MyVariant Identifiers: chr16:g.9857196C>T (hg19) ; chr16:g.9763339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763339C>T , CM000678.2:g.9763339C>T	GRCh38
NC_000016.9:g.9857196C>T , CM000678.1:g.9857196C>T	GRCh37
NC_000016.8:g.9764697C>T	NCBI36
NG_011812.1:g.424416G>A
NG_011812.2:g.424416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4205G>A MANE Select	ENSP00000332549.3:p.Arg1402Gln
ENST00000535259.6:c.*16G>A	ENSP00000441572.3:n.*16G>A
ENST00000636273.2:n.3455G>A
ENST00000674742.1:c.3734G>A	ENSP00000502200.1:p.Arg1245Gln
ENST00000675398.1:c.*1575G>A	ENSP00000502752.1:n.*1575G>A
ENST00000330684.3:c.4205G>A	ENSP00000332549.3:p.Arg1402Gln
ENST00000396573.6:c.4205G>A	ENSP00000379818.2:p.Arg1402Gln
ENST00000396575.6:c.3794G>A	ENSP00000379820.3:p.Arg1265Gln
ENST00000461292.3:n.3501G>A
ENST00000535259.5:c.*16G>A	ENSP00000441572.2:n.*16G>A
ENST00000562109.5:c.*16G>A	ENSP00000454998.1:n.*16G>A
NM_000833.4:c.4205G>A	NP_000824.1:p.Arg1402Gln
NM_001134407.2:c.4205G>A	NP_001127879.1:p.Arg1402Gln
NM_001134408.2:c.*16G>A	NP_001127880.1:n.*16G>A
XM_011522456.1:c.4046G>A	XP_011520758.1:p.Arg1349Gln
XM_011522457.1:c.3947G>A	XP_011520759.1:p.Arg1316Gln
XM_011522458.1:c.3734G>A	XP_011520760.1:p.Arg1245Gln
XM_011522459.1:c.3734G>A	XP_011520761.1:p.Arg1245Gln
XM_011522460.1:c.3734G>A	XP_011520762.1:p.Arg1245Gln
XM_011522461.1:c.*16G>A	XP_011520763.1:n.*16G>A
XM_011522458.3:c.3734G>A	XP_011520760.1:p.Arg1245Gln
XM_011522461.3:c.*16G>A	XP_011520763.1:n.*16G>A
XM_017023172.1:c.4361G>A	XP_016878661.1:p.Arg1454Gln
XM_017023173.1:c.*16G>A	XP_016878662.1:n.*16G>A
NM_001134407.3:c.4205G>A MANE Select	NP_001127879.1:p.Arg1402Gln
NM_000833.5:c.4205G>A	NP_000824.1:p.Arg1402Gln