Canonical Allele Identifier: CA10648499

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 321599
• ClinVar RCV Id: RCV000344799
• dbSNP Id: rs886052554
• gnomAD v3: 16-9763551-G-T
• gnomAD v4: 16-9763551-G-T
• COSMIC: COSM311636
• MyVariant Identifiers: chr16:g.9857408G>T (hg19) ; chr16:g.9763551G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763551G>T , CM000678.2:g.9763551G>T	GRCh38
NC_000016.9:g.9857408G>T , CM000678.1:g.9857408G>T	GRCh37
NC_000016.8:g.9764909G>T	NCBI36
NG_011812.1:g.424204C>A
NG_011812.2:g.424204C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3993C>A MANE Select	ENSP00000332549.3:p.Val1331=
ENST00000535259.6:c.3302-123C>A	ENSP00000441572.3:n.3302-123C>A
ENST00000636273.2:n.3366-123C>A
ENST00000674742.1:c.3522C>A	ENSP00000502200.1:p.Val1174=
ENST00000675398.1:c.*1363C>A	ENSP00000502752.1:n.*1363C>A
ENST00000330684.3:c.3993C>A	ENSP00000332549.3:p.Val1331=
ENST00000396573.6:c.3993C>A	ENSP00000379818.2:p.Val1331=
ENST00000396575.6:c.3582C>A	ENSP00000379820.3:p.Val1194=
ENST00000461292.3:n.3412-123C>A
ENST00000535259.5:c.3362-123C>A	ENSP00000441572.2:n.3362-123C>A
ENST00000562109.5:c.3773-123C>A	ENSP00000454998.1:n.3773-123C>A
NM_000833.4:c.3993C>A	NP_000824.1:p.Val1331=
NM_001134407.2:c.3993C>A	NP_001127879.1:p.Val1331=
NM_001134408.2:c.3773-123C>A	NP_001127880.1:n.3773-123C>A
XM_011522456.1:c.3834C>A	XP_011520758.1:p.Val1278=
XM_011522457.1:c.3735C>A	XP_011520759.1:p.Val1245=
XM_011522458.1:c.3522C>A	XP_011520760.1:p.Val1174=
XM_011522459.1:c.3522C>A	XP_011520761.1:p.Val1174=
XM_011522460.1:c.3522C>A	XP_011520762.1:p.Val1174=
XM_011522461.1:c.3773-123C>A	XP_011520763.1:n.3773-123C>A
XM_011522458.3:c.3522C>A	XP_011520760.1:p.Val1174=
XM_011522461.3:c.3773-123C>A	XP_011520763.1:n.3773-123C>A
XM_017023172.1:c.4149C>A	XP_016878661.1:p.Val1383=
XM_017023173.1:c.3929-123C>A	XP_016878662.1:n.3929-123C>A
NM_001134407.3:c.3993C>A MANE Select	NP_001127879.1:p.Val1331=
NM_000833.5:c.3993C>A	NP_000824.1:p.Val1331=