Canonical Allele Identifier: CA394706520

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2141128274
• MyVariant Identifiers: chr16:g.9857463A>C (hg19) ; chr16:g.9763606A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763606A>C , CM000678.2:g.9763606A>C	GRCh38
NC_000016.9:g.9857463A>C , CM000678.1:g.9857463A>C	GRCh37
NC_000016.8:g.9764964A>C	NCBI36
NG_011812.1:g.424149T>G
NG_011812.2:g.424149T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3938T>G MANE Select	ENSP00000332549.3:p.Leu1313Arg
ENST00000535259.6:c.3301+166T>G	ENSP00000441572.3:n.3301+166T>G
ENST00000636273.2:n.3365+166T>G
ENST00000674742.1:c.3467T>G	ENSP00000502200.1:p.Leu1156Arg
ENST00000675398.1:c.*1308T>G	ENSP00000502752.1:n.*1308T>G
ENST00000330684.3:c.3938T>G	ENSP00000332549.3:p.Leu1313Arg
ENST00000396573.6:c.3938T>G	ENSP00000379818.2:p.Leu1313Arg
ENST00000396575.6:c.3527T>G	ENSP00000379820.3:p.Leu1176Arg
ENST00000461292.3:n.3411+166T>G
ENST00000535259.5:c.3361+166T>G	ENSP00000441572.2:n.3361+166T>G
ENST00000562109.5:c.3772+166T>G	ENSP00000454998.1:n.3772+166T>G
NM_000833.4:c.3938T>G	NP_000824.1:p.Leu1313Arg
NM_001134407.2:c.3938T>G	NP_001127879.1:p.Leu1313Arg
NM_001134408.2:c.3772+166T>G	NP_001127880.1:n.3772+166T>G
XM_011522456.1:c.3779T>G	XP_011520758.1:p.Leu1260Arg
XM_011522457.1:c.3680T>G	XP_011520759.1:p.Leu1227Arg
XM_011522458.1:c.3467T>G	XP_011520760.1:p.Leu1156Arg
XM_011522459.1:c.3467T>G	XP_011520761.1:p.Leu1156Arg
XM_011522460.1:c.3467T>G	XP_011520762.1:p.Leu1156Arg
XM_011522461.1:c.3772+166T>G	XP_011520763.1:n.3772+166T>G
XM_011522458.3:c.3467T>G	XP_011520760.1:p.Leu1156Arg
XM_011522461.3:c.3772+166T>G	XP_011520763.1:n.3772+166T>G
XM_017023172.1:c.4094T>G	XP_016878661.1:p.Leu1365Arg
XM_017023173.1:c.3928+166T>G	XP_016878662.1:n.3928+166T>G
NM_001134407.3:c.3938T>G MANE Select	NP_001127879.1:p.Leu1313Arg
NM_000833.5:c.3938T>G	NP_000824.1:p.Leu1313Arg