Canonical Allele Identifier: CA394706518

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2851544
• ClinVar RCV Id: RCV003742192
• dbSNP Id: rs1555482148
• MyVariant Identifiers: chr16:g.9857461T>C (hg19) ; chr16:g.9763604T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763604T>C , CM000678.2:g.9763604T>C	GRCh38
NC_000016.9:g.9857461T>C , CM000678.1:g.9857461T>C	GRCh37
NC_000016.8:g.9764962T>C	NCBI36
NG_011812.1:g.424151A>G
NG_011812.2:g.424151A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3940A>G MANE Select	ENSP00000332549.3:p.Lys1314Glu
ENST00000535259.6:c.3301+168A>G	ENSP00000441572.3:n.3301+168A>G
ENST00000636273.2:n.3365+168A>G
ENST00000674742.1:c.3469A>G	ENSP00000502200.1:p.Lys1157Glu
ENST00000675398.1:c.*1310A>G	ENSP00000502752.1:n.*1310A>G
ENST00000330684.3:c.3940A>G	ENSP00000332549.3:p.Lys1314Glu
ENST00000396573.6:c.3940A>G	ENSP00000379818.2:p.Lys1314Glu
ENST00000396575.6:c.3529A>G	ENSP00000379820.3:p.Lys1177Glu
ENST00000461292.3:n.3411+168A>G
ENST00000535259.5:c.3361+168A>G	ENSP00000441572.2:n.3361+168A>G
ENST00000562109.5:c.3772+168A>G	ENSP00000454998.1:n.3772+168A>G
NM_000833.4:c.3940A>G	NP_000824.1:p.Lys1314Glu
NM_001134407.2:c.3940A>G	NP_001127879.1:p.Lys1314Glu
NM_001134408.2:c.3772+168A>G	NP_001127880.1:n.3772+168A>G
XM_011522456.1:c.3781A>G	XP_011520758.1:p.Lys1261Glu
XM_011522457.1:c.3682A>G	XP_011520759.1:p.Lys1228Glu
XM_011522458.1:c.3469A>G	XP_011520760.1:p.Lys1157Glu
XM_011522459.1:c.3469A>G	XP_011520761.1:p.Lys1157Glu
XM_011522460.1:c.3469A>G	XP_011520762.1:p.Lys1157Glu
XM_011522461.1:c.3772+168A>G	XP_011520763.1:n.3772+168A>G
XM_011522458.3:c.3469A>G	XP_011520760.1:p.Lys1157Glu
XM_011522461.3:c.3772+168A>G	XP_011520763.1:n.3772+168A>G
XM_017023172.1:c.4096A>G	XP_016878661.1:p.Lys1366Glu
XM_017023173.1:c.3928+168A>G	XP_016878662.1:n.3928+168A>G
NM_001134407.3:c.3940A>G MANE Select	NP_001127879.1:p.Lys1314Glu
NM_000833.5:c.3940A>G	NP_000824.1:p.Lys1314Glu