Canonical Allele Identifier: CA2573152113

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1510767
• ClinVar RCV Id: RCV002014111
• dbSNP Id: rs2141294782

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9822318_9822359dup , CM000678.2:g.9822318_9822359dup	GRCh38
NC_000016.9:g.9916175_9916216dup , CM000678.1:g.9916175_9916216dup	GRCh37
NC_000016.8:g.9823676_9823717dup	NCBI36
NG_011812.1:g.365398_365439dup
NG_011812.2:g.365398_365439dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2075_2116dup MANE Select	ENSP00000332549.3:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProT...
ENST00000535259.6:c.1604_1645dup	ENSP00000441572.3:p.Met548_Thr549insArgAsnIleArgAsnAsnTyrProT...
ENST00000636273.2:n.1668_1709dup
ENST00000674742.1:c.1604_1645dup	ENSP00000502200.1:p.Met548_Thr549insArgAsnIleArgAsnAsnTyrProT...
ENST00000675398.1:c.2075_2116dup	ENSP00000502752.1:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProT...
ENST00000330684.3:c.2075_2116dup	ENSP00000332549.3:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProT...
ENST00000396573.6:c.2075_2116dup	ENSP00000379818.2:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProT...
ENST00000396575.6:c.1664_1705dup	ENSP00000379820.3:p.Met568_Thr569insArgAsnIleArgAsnAsnTyrProT...
ENST00000461292.3:n.1714_1755dup
ENST00000535259.5:c.1664_1705dup	ENSP00000441572.2:p.Met568_Thr569insArgAsnIleArgAsnAsnTyrProT...
ENST00000562109.5:c.2075_2116dup	ENSP00000454998.1:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProT...
NM_000833.4:c.2075_2116dup	NP_000824.1:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProTyrMetH...
NM_001134407.2:c.2075_2116dup	NP_001127879.1:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProTyrM...
NM_001134408.2:c.2075_2116dup	NP_001127880.1:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProTyrM...
XM_011522456.1:c.1916_1957dup	XP_011520758.1:p.Met652_Thr653insArgAsnIleArgAsnAsnTyrProTyrM...
XM_011522457.1:c.1817_1858dup	XP_011520759.1:p.Met619_Thr620insArgAsnIleArgAsnAsnTyrProTyrM...
XM_011522458.1:c.1604_1645dup	XP_011520760.1:p.Met548_Thr549insArgAsnIleArgAsnAsnTyrProTyrM...
XM_011522459.1:c.1604_1645dup	XP_011520761.1:p.Met548_Thr549insArgAsnIleArgAsnAsnTyrProTyrM...
XM_011522460.1:c.1604_1645dup	XP_011520762.1:p.Met548_Thr549insArgAsnIleArgAsnAsnTyrProTyrM...
XM_011522461.1:c.2075_2116dup	XP_011520763.1:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProTyrM...
XM_011522458.3:c.1604_1645dup	XP_011520760.1:p.Met548_Thr549insArgAsnIleArgAsnAsnTyrProTyrM...
XM_011522461.3:c.2075_2116dup	XP_011520763.1:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProTyrM...
XM_017023172.1:c.2231_2272dup	XP_016878661.1:p.Met757_Thr758insArgAsnIleArgAsnAsnTyrProTyrM...
XM_017023173.1:c.2231_2272dup	XP_016878662.1:p.Met757_Thr758insArgAsnIleArgAsnAsnTyrProTyrM...
NM_001134407.3:c.2075_2116dup MANE Select	NP_001127879.1:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProTyrM...
NM_000833.5:c.2075_2116dup	NP_000824.1:p.Met705_Thr706insArgAsnIleArgAsnAsnTyrProTyrMetH...