Canonical Allele Identifier: CA394799302

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2501810
• ClinVar RCV Id: RCV003228229
• MyVariant Identifiers: chr16:g.9923341A>C (hg19) ; chr16:g.9829484A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9829484A>C , CM000678.2:g.9829484A>C	GRCh38
NC_000016.9:g.9923341A>C , CM000678.1:g.9923341A>C	GRCh37
NC_000016.8:g.9830842A>C	NCBI36
NG_011812.1:g.358271T>G
NG_011812.2:g.358271T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.1946T>G MANE Select	ENSP00000332549.3:p.Leu649Arg
ENST00000535259.6:c.1475T>G	ENSP00000441572.3:p.Leu492Arg
ENST00000636273.2:n.1539T>G
ENST00000674742.1:c.1475T>G	ENSP00000502200.1:p.Leu492Arg
ENST00000675398.1:c.1946T>G	ENSP00000502752.1:p.Leu649Arg
ENST00000330684.3:c.1946T>G	ENSP00000332549.3:p.Leu649Arg
ENST00000396573.6:c.1946T>G	ENSP00000379818.2:p.Leu649Arg
ENST00000396575.6:c.1535T>G	ENSP00000379820.3:p.Leu512Arg
ENST00000461292.3:n.1585T>G
ENST00000535259.5:c.1535T>G	ENSP00000441572.2:p.Leu512Arg
ENST00000562109.5:c.1946T>G	ENSP00000454998.1:p.Leu649Arg
NM_000833.4:c.1946T>G	NP_000824.1:p.Leu649Arg
NM_001134407.2:c.1946T>G	NP_001127879.1:p.Leu649Arg
NM_001134408.2:c.1946T>G	NP_001127880.1:p.Leu649Arg
XM_011522456.1:c.1787T>G	XP_011520758.1:p.Leu596Arg
XM_011522457.1:c.1688T>G	XP_011520759.1:p.Leu563Arg
XM_011522458.1:c.1475T>G	XP_011520760.1:p.Leu492Arg
XM_011522459.1:c.1475T>G	XP_011520761.1:p.Leu492Arg
XM_011522460.1:c.1475T>G	XP_011520762.1:p.Leu492Arg
XM_011522461.1:c.1946T>G	XP_011520763.1:p.Leu649Arg
XM_011522458.3:c.1475T>G	XP_011520760.1:p.Leu492Arg
XM_011522461.3:c.1946T>G	XP_011520763.1:p.Leu649Arg
XM_017023172.1:c.2102T>G	XP_016878661.1:p.Leu701Arg
XM_017023173.1:c.2102T>G	XP_016878662.1:p.Leu701Arg
NM_001134407.3:c.1946T>G MANE Select	NP_001127879.1:p.Leu649Arg
NM_000833.5:c.1946T>G	NP_000824.1:p.Leu649Arg