Canonical Allele Identifier: CA394798680

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 928559
• ClinVar RCV Id: RCV001192665
• dbSNP Id: rs2044763223
• MyVariant Identifiers: chr16:g.10032120C>A (hg19) ; chr16:g.9938263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938263C>A , CM000678.2:g.9938263C>A	GRCh38
NC_000016.9:g.10032120C>A , CM000678.1:g.10032120C>A	GRCh37
NC_000016.8:g.9939621C>A	NCBI36
NG_011812.1:g.249492G>T
NG_011812.2:g.249492G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.703G>T MANE Select	ENSP00000332549.3:p.Glu235Ter
ENST00000535259.6:c.232G>T	ENSP00000441572.3:p.Glu78Ter
ENST00000636273.2:n.296G>T
ENST00000637393.1:c.295G>T	ENSP00000490232.1:p.Glu99Ter
ENST00000674742.1:c.232G>T	ENSP00000502200.1:p.Glu78Ter
ENST00000675189.1:n.1187G>T
ENST00000675398.1:c.703G>T	ENSP00000502752.1:p.Glu235Ter
ENST00000330684.3:c.703G>T	ENSP00000332549.3:p.Glu235Ter
ENST00000396573.6:c.703G>T	ENSP00000379818.2:p.Glu235Ter
ENST00000396575.6:c.292G>T	ENSP00000379820.3:p.Glu98Ter
ENST00000461292.3:n.342G>T
ENST00000535259.5:c.292G>T	ENSP00000441572.2:p.Glu98Ter
ENST00000562109.5:c.703G>T	ENSP00000454998.1:p.Glu235Ter
ENST00000566670.2:n.545G>T
ENST00000566683.1:n.241-47163G>T
ENST00000568247.3:n.595G>T
NM_000833.4:c.703G>T	NP_000824.1:p.Glu235Ter
NM_001134407.2:c.703G>T	NP_001127879.1:p.Glu235Ter
NM_001134408.2:c.703G>T	NP_001127880.1:p.Glu235Ter
XM_011522456.1:c.544G>T	XP_011520758.1:p.Glu182Ter
XM_011522457.1:c.445G>T	XP_011520759.1:p.Glu149Ter
XM_011522458.1:c.232G>T	XP_011520760.1:p.Glu78Ter
XM_011522459.1:c.232G>T	XP_011520761.1:p.Glu78Ter
XM_011522460.1:c.232G>T	XP_011520762.1:p.Glu78Ter
XM_011522461.1:c.703G>T	XP_011520763.1:p.Glu235Ter
XM_011522458.3:c.232G>T	XP_011520760.1:p.Glu78Ter
XM_011522461.3:c.703G>T	XP_011520763.1:p.Glu235Ter
XM_017023172.1:c.859G>T	XP_016878661.1:p.Glu287Ter
XM_017023173.1:c.859G>T	XP_016878662.1:p.Glu287Ter
NM_001134407.3:c.703G>T MANE Select	NP_001127879.1:p.Glu235Ter
NM_000833.5:c.703G>T	NP_000824.1:p.Glu235Ter