Canonical Allele Identifier: CA394706489

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1064399
• ClinVar RCV Id: RCV001374361
• dbSNP Id: rs774419037
• gnomAD v2: 16-9857449-G-C
• gnomAD v3: 16-9763592-G-C
• gnomAD v4: 16-9763592-G-C
• MyVariant Identifiers: chr16:g.9857449G>C (hg19) ; chr16:g.9763592G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763592G>C , CM000678.2:g.9763592G>C	GRCh38
NC_000016.9:g.9857449G>C , CM000678.1:g.9857449G>C	GRCh37
NC_000016.8:g.9764950G>C	NCBI36
NG_011812.1:g.424163C>G
NG_011812.2:g.424163C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3952C>G MANE Select	ENSP00000332549.3:p.Arg1318Gly
ENST00000535259.6:c.3302-164C>G	ENSP00000441572.3:n.3302-164C>G
ENST00000636273.2:n.3366-164C>G
ENST00000674742.1:c.3481C>G	ENSP00000502200.1:p.Arg1161Gly
ENST00000675398.1:c.*1322C>G	ENSP00000502752.1:n.*1322C>G
ENST00000330684.3:c.3952C>G	ENSP00000332549.3:p.Arg1318Gly
ENST00000396573.6:c.3952C>G	ENSP00000379818.2:p.Arg1318Gly
ENST00000396575.6:c.3541C>G	ENSP00000379820.3:p.Arg1181Gly
ENST00000461292.3:n.3412-164C>G
ENST00000535259.5:c.3362-164C>G	ENSP00000441572.2:n.3362-164C>G
ENST00000562109.5:c.3773-164C>G	ENSP00000454998.1:n.3773-164C>G
NM_000833.4:c.3952C>G	NP_000824.1:p.Arg1318Gly
NM_001134407.2:c.3952C>G	NP_001127879.1:p.Arg1318Gly
NM_001134408.2:c.3773-164C>G	NP_001127880.1:n.3773-164C>G
XM_011522456.1:c.3793C>G	XP_011520758.1:p.Arg1265Gly
XM_011522457.1:c.3694C>G	XP_011520759.1:p.Arg1232Gly
XM_011522458.1:c.3481C>G	XP_011520760.1:p.Arg1161Gly
XM_011522459.1:c.3481C>G	XP_011520761.1:p.Arg1161Gly
XM_011522460.1:c.3481C>G	XP_011520762.1:p.Arg1161Gly
XM_011522461.1:c.3773-164C>G	XP_011520763.1:n.3773-164C>G
XM_011522458.3:c.3481C>G	XP_011520760.1:p.Arg1161Gly
XM_011522461.3:c.3773-164C>G	XP_011520763.1:n.3773-164C>G
XM_017023172.1:c.4108C>G	XP_016878661.1:p.Arg1370Gly
XM_017023173.1:c.3929-164C>G	XP_016878662.1:n.3929-164C>G
NM_001134407.3:c.3952C>G MANE Select	NP_001127879.1:p.Arg1318Gly
NM_000833.5:c.3952C>G	NP_000824.1:p.Arg1318Gly