Canonical Allele Identifier: CA2573054315

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1325728
• ClinVar RCV Id: RCV001785265
• dbSNP Id: rs2141294703

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9822292del , CM000678.2:g.9822292del	GRCh38
NC_000016.9:g.9916149del , CM000678.1:g.9916149del	GRCh37
NC_000016.8:g.9823650del	NCBI36
NG_011812.1:g.365463del
NG_011812.2:g.365463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2140del MANE Select	ENSP00000332549.3:p.Glu714ArgfsTer7
ENST00000535259.6:c.1669del	ENSP00000441572.3:p.Glu557ArgfsTer7
ENST00000636273.2:n.1733del
ENST00000674742.1:c.1669del	ENSP00000502200.1:p.Glu557ArgfsTer7
ENST00000675398.1:c.2140del	ENSP00000502752.1:p.Glu714ArgfsTer7
ENST00000330684.3:c.2140del	ENSP00000332549.3:p.Glu714ArgfsTer7
ENST00000396573.6:c.2140del	ENSP00000379818.2:p.Glu714ArgfsTer7
ENST00000396575.6:c.1729del	ENSP00000379820.3:p.Glu577ArgfsTer7
ENST00000461292.3:n.1779del
ENST00000535259.5:c.1729del	ENSP00000441572.2:p.Glu577ArgfsTer7
ENST00000562109.5:c.2140del	ENSP00000454998.1:p.Glu714ArgfsTer7
NM_000833.4:c.2140del	NP_000824.1:p.Glu714ArgfsTer7
NM_001134407.2:c.2140del	NP_001127879.1:p.Glu714ArgfsTer7
NM_001134408.2:c.2140del	NP_001127880.1:p.Glu714ArgfsTer7
XM_011522456.1:c.1981del	XP_011520758.1:p.Glu661ArgfsTer7
XM_011522457.1:c.1882del	XP_011520759.1:p.Glu628ArgfsTer7
XM_011522458.1:c.1669del	XP_011520760.1:p.Glu557ArgfsTer7
XM_011522459.1:c.1669del	XP_011520761.1:p.Glu557ArgfsTer7
XM_011522460.1:c.1669del	XP_011520762.1:p.Glu557ArgfsTer7
XM_011522461.1:c.2140del	XP_011520763.1:p.Glu714ArgfsTer7
XM_011522458.3:c.1669del	XP_011520760.1:p.Glu557ArgfsTer7
XM_011522461.3:c.2140del	XP_011520763.1:p.Glu714ArgfsTer7
XM_017023172.1:c.2296del	XP_016878661.1:p.Glu766ArgfsTer7
XM_017023173.1:c.2296del	XP_016878662.1:p.Glu766ArgfsTer7
NM_001134407.3:c.2140del MANE Select	NP_001127879.1:p.Glu714ArgfsTer7
NM_000833.5:c.2140del	NP_000824.1:p.Glu714ArgfsTer7