Canonical Allele Identifier: CA2580613420

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1069297
• ClinVar RCV Id: RCV001381110
• dbSNP Id: rs2141630590

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938155_9938156del , CM000678.2:g.9938155_9938156del	GRCh38
NC_000016.9:g.10032012_10032013del , CM000678.1:g.10032012_10032013del	GRCh37
NC_000016.8:g.9939513_9939514del	NCBI36
NG_011812.1:g.249601_249602del
NG_011812.2:g.249601_249602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.812_813del MANE Select	ENSP00000332549.3:p.Glu271ValfsTer12
ENST00000535259.6:c.341_342del	ENSP00000441572.3:p.Glu114ValfsTer12
ENST00000636273.2:n.405_406del
ENST00000637393.1:c.404_405del	ENSP00000490232.1:p.Glu135ValfsTer12
ENST00000674742.1:c.341_342del	ENSP00000502200.1:p.Glu114ValfsTer12
ENST00000675189.1:n.1296_1297del
ENST00000675398.1:c.812_813del	ENSP00000502752.1:p.Glu271ValfsTer12
ENST00000330684.3:c.812_813del	ENSP00000332549.3:p.Glu271ValfsTer12
ENST00000396573.6:c.812_813del	ENSP00000379818.2:p.Glu271ValfsTer12
ENST00000396575.6:c.401_402del	ENSP00000379820.3:p.Glu134ValfsTer12
ENST00000461292.3:n.451_452del
ENST00000535259.5:c.401_402del	ENSP00000441572.2:p.Glu134ValfsTer12
ENST00000562109.5:c.812_813del	ENSP00000454998.1:p.Glu271ValfsTer12
ENST00000566670.2:n.654_655del
ENST00000566683.1:n.241-47054_241-47053del
ENST00000568247.3:n.704_705del
NM_000833.4:c.812_813del	NP_000824.1:p.Glu271ValfsTer12
NM_001134407.2:c.812_813del	NP_001127879.1:p.Glu271ValfsTer12
NM_001134408.2:c.812_813del	NP_001127880.1:p.Glu271ValfsTer12
XM_011522456.1:c.653_654del	XP_011520758.1:p.Glu218ValfsTer12
XM_011522457.1:c.554_555del	XP_011520759.1:p.Glu185ValfsTer12
XM_011522458.1:c.341_342del	XP_011520760.1:p.Glu114ValfsTer12
XM_011522459.1:c.341_342del	XP_011520761.1:p.Glu114ValfsTer12
XM_011522460.1:c.341_342del	XP_011520762.1:p.Glu114ValfsTer12
XM_011522461.1:c.812_813del	XP_011520763.1:p.Glu271ValfsTer12
XM_011522458.3:c.341_342del	XP_011520760.1:p.Glu114ValfsTer12
XM_011522461.3:c.812_813del	XP_011520763.1:p.Glu271ValfsTer12
XM_017023172.1:c.968_969del	XP_016878661.1:p.Glu323ValfsTer12
XM_017023173.1:c.968_969del	XP_016878662.1:p.Glu323ValfsTer12
NM_001134407.3:c.812_813del MANE Select	NP_001127879.1:p.Glu271ValfsTer12
NM_000833.5:c.812_813del	NP_000824.1:p.Glu271ValfsTer12