Canonical Allele Identifier: CA2580092105

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2030507
• ClinVar RCV Id: RCV002871814

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938158_9938159del , CM000678.2:g.9938158_9938159del	GRCh38
NC_000016.9:g.10032015_10032016del , CM000678.1:g.10032015_10032016del	GRCh37
NC_000016.8:g.9939516_9939517del	NCBI36
NG_011812.1:g.249598_249599del
NG_011812.2:g.249598_249599del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.809_810del MANE Select	ENSP00000332549.3:p.Lys270ArgfsTer13
ENST00000535259.6:c.338_339del	ENSP00000441572.3:p.Lys113ArgfsTer13
ENST00000636273.2:n.402_403del
ENST00000637393.1:c.401_402del	ENSP00000490232.1:p.Lys134ArgfsTer13
ENST00000674742.1:c.338_339del	ENSP00000502200.1:p.Lys113ArgfsTer13
ENST00000675189.1:n.1293_1294del
ENST00000675398.1:c.809_810del	ENSP00000502752.1:p.Lys270ArgfsTer13
ENST00000330684.3:c.809_810del	ENSP00000332549.3:p.Lys270ArgfsTer13
ENST00000396573.6:c.809_810del	ENSP00000379818.2:p.Lys270ArgfsTer13
ENST00000396575.6:c.398_399del	ENSP00000379820.3:p.Lys133ArgfsTer13
ENST00000461292.3:n.448_449del
ENST00000535259.5:c.398_399del	ENSP00000441572.2:p.Lys133ArgfsTer13
ENST00000562109.5:c.809_810del	ENSP00000454998.1:p.Lys270ArgfsTer13
ENST00000566670.2:n.651_652del
ENST00000566683.1:n.241-47057_241-47056del
ENST00000568247.3:n.701_702del
NM_000833.4:c.809_810del	NP_000824.1:p.Lys270ArgfsTer13
NM_001134407.2:c.809_810del	NP_001127879.1:p.Lys270ArgfsTer13
NM_001134408.2:c.809_810del	NP_001127880.1:p.Lys270ArgfsTer13
XM_011522456.1:c.650_651del	XP_011520758.1:p.Lys217ArgfsTer13
XM_011522457.1:c.551_552del	XP_011520759.1:p.Lys184ArgfsTer13
XM_011522458.1:c.338_339del	XP_011520760.1:p.Lys113ArgfsTer13
XM_011522459.1:c.338_339del	XP_011520761.1:p.Lys113ArgfsTer13
XM_011522460.1:c.338_339del	XP_011520762.1:p.Lys113ArgfsTer13
XM_011522461.1:c.809_810del	XP_011520763.1:p.Lys270ArgfsTer13
XM_011522458.3:c.338_339del	XP_011520760.1:p.Lys113ArgfsTer13
XM_011522461.3:c.809_810del	XP_011520763.1:p.Lys270ArgfsTer13
XM_017023172.1:c.965_966del	XP_016878661.1:p.Lys322ArgfsTer13
XM_017023173.1:c.965_966del	XP_016878662.1:p.Lys322ArgfsTer13
NM_001134407.3:c.809_810del MANE Select	NP_001127879.1:p.Lys270ArgfsTer13
NM_000833.5:c.809_810del	NP_000824.1:p.Lys270ArgfsTer13