Canonical Allele Identifier: CA1139664517

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 987293
• ClinVar RCV Id: RCV001268613
• dbSNP Id: rs1900820269

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764884del , CM000678.2:g.9764884del	GRCh38
NC_000016.9:g.9858741del , CM000678.1:g.9858741del	GRCh37
NC_000016.8:g.9766242del	NCBI36
NG_011812.1:g.422871del
NG_011812.2:g.422871del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2660del MANE Select	ENSP00000332549.3:p.Leu887ArgfsTer9
ENST00000535259.6:c.2189del	ENSP00000441572.3:p.Leu730ArgfsTer9
ENST00000636273.2:n.2253del
ENST00000674742.1:c.2189del	ENSP00000502200.1:p.Leu730ArgfsTer9
ENST00000675398.1:c.*30del	ENSP00000502752.1:n.*30del
ENST00000330684.3:c.2660del	ENSP00000332549.3:p.Leu887ArgfsTer9
ENST00000396573.6:c.2660del	ENSP00000379818.2:p.Leu887ArgfsTer9
ENST00000396575.6:c.2249del	ENSP00000379820.3:p.Leu750ArgfsTer9
ENST00000461292.3:n.2299del
ENST00000463531.1:n.443del
ENST00000535259.5:c.2249del	ENSP00000441572.2:p.Leu750ArgfsTer9
ENST00000562109.5:c.2660del	ENSP00000454998.1:p.Leu887ArgfsTer9
NM_000833.4:c.2660del	NP_000824.1:p.Leu887ArgfsTer9
NM_001134407.2:c.2660del	NP_001127879.1:p.Leu887ArgfsTer9
NM_001134408.2:c.2660del	NP_001127880.1:p.Leu887ArgfsTer9
XM_011522456.1:c.2501del	XP_011520758.1:p.Leu834ArgfsTer9
XM_011522457.1:c.2402del	XP_011520759.1:p.Leu801ArgfsTer9
XM_011522458.1:c.2189del	XP_011520760.1:p.Leu730ArgfsTer9
XM_011522459.1:c.2189del	XP_011520761.1:p.Leu730ArgfsTer9
XM_011522460.1:c.2189del	XP_011520762.1:p.Leu730ArgfsTer9
XM_011522461.1:c.2660del	XP_011520763.1:p.Leu887ArgfsTer9
XM_011522458.3:c.2189del	XP_011520760.1:p.Leu730ArgfsTer9
XM_011522461.3:c.2660del	XP_011520763.1:p.Leu887ArgfsTer9
XM_017023172.1:c.2816del	XP_016878661.1:p.Leu939ArgfsTer9
XM_017023173.1:c.2816del	XP_016878662.1:p.Leu939ArgfsTer9
NM_001134407.3:c.2660del MANE Select	NP_001127879.1:p.Leu887ArgfsTer9
NM_000833.5:c.2660del	NP_000824.1:p.Leu887ArgfsTer9