Canonical Allele Identifier: CA915949118

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 664368
• ClinVar RCV Id: RCV000822453
• dbSNP Id: rs1596377439

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764751del , CM000678.2:g.9764751del	GRCh38
NC_000016.9:g.9858608del , CM000678.1:g.9858608del	GRCh37
NC_000016.8:g.9766109del	NCBI36
NG_011812.1:g.423004del
NG_011812.2:g.423004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2793del MANE Select	ENSP00000332549.3:p.Met932TrpfsTer10
ENST00000535259.6:c.2322del	ENSP00000441572.3:p.Met775TrpfsTer10
ENST00000636273.2:n.2386del
ENST00000674742.1:c.2322del	ENSP00000502200.1:p.Met775TrpfsTer10
ENST00000675398.1:c.*163del	ENSP00000502752.1:n.*163del
ENST00000330684.3:c.2793del	ENSP00000332549.3:p.Met932TrpfsTer10
ENST00000396573.6:c.2793del	ENSP00000379818.2:p.Met932TrpfsTer10
ENST00000396575.6:c.2382del	ENSP00000379820.3:p.Met795TrpfsTer10
ENST00000461292.3:n.2432del
ENST00000535259.5:c.2382del	ENSP00000441572.2:p.Met795TrpfsTer10
ENST00000562109.5:c.2793del	ENSP00000454998.1:p.Met932TrpfsTer10
NM_000833.4:c.2793del	NP_000824.1:p.Met932TrpfsTer10
NM_001134407.2:c.2793del	NP_001127879.1:p.Met932TrpfsTer10
NM_001134408.2:c.2793del	NP_001127880.1:p.Met932TrpfsTer10
XM_011522456.1:c.2634del	XP_011520758.1:p.Met879TrpfsTer10
XM_011522457.1:c.2535del	XP_011520759.1:p.Met846TrpfsTer10
XM_011522458.1:c.2322del	XP_011520760.1:p.Met775TrpfsTer10
XM_011522459.1:c.2322del	XP_011520761.1:p.Met775TrpfsTer10
XM_011522460.1:c.2322del	XP_011520762.1:p.Met775TrpfsTer10
XM_011522461.1:c.2793del	XP_011520763.1:p.Met932TrpfsTer10
XM_011522458.3:c.2322del	XP_011520760.1:p.Met775TrpfsTer10
XM_011522461.3:c.2793del	XP_011520763.1:p.Met932TrpfsTer10
XM_017023172.1:c.2949del	XP_016878661.1:p.Met984TrpfsTer10
XM_017023173.1:c.2949del	XP_016878662.1:p.Met984TrpfsTer10
NM_001134407.3:c.2793del MANE Select	NP_001127879.1:p.Met932TrpfsTer10
NM_000833.5:c.2793del	NP_000824.1:p.Met932TrpfsTer10