Canonical Allele Identifier: CA2739265494

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2816521
• ClinVar RCV Id: RCV003741789

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9822405_9822409del , CM000678.2:g.9822405_9822409del	GRCh38
NC_000016.9:g.9916262_9916266del , CM000678.1:g.9916262_9916266del	GRCh37
NC_000016.8:g.9823763_9823767del	NCBI36
NG_011812.1:g.365346_365350del
NG_011812.2:g.365346_365350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2023_2027del MANE Select	ENSP00000332549.3:p.Asp675PhefsTer11
ENST00000535259.6:c.1552_1556del	ENSP00000441572.3:p.Asp518PhefsTer11
ENST00000636273.2:n.1616_1620del
ENST00000674742.1:c.1552_1556del	ENSP00000502200.1:p.Asp518PhefsTer11
ENST00000675398.1:c.2023_2027del	ENSP00000502752.1:p.Asp675PhefsTer11
ENST00000330684.3:c.2023_2027del	ENSP00000332549.3:p.Asp675PhefsTer11
ENST00000396573.6:c.2023_2027del	ENSP00000379818.2:p.Asp675PhefsTer11
ENST00000396575.6:c.1612_1616del	ENSP00000379820.3:p.Asp538PhefsTer11
ENST00000461292.3:n.1662_1666del
ENST00000535259.5:c.1612_1616del	ENSP00000441572.2:p.Asp538PhefsTer11
ENST00000562109.5:c.2023_2027del	ENSP00000454998.1:p.Asp675PhefsTer11
NM_000833.4:c.2023_2027del	NP_000824.1:p.Asp675PhefsTer11
NM_001134407.2:c.2023_2027del	NP_001127879.1:p.Asp675PhefsTer11
NM_001134408.2:c.2023_2027del	NP_001127880.1:p.Asp675PhefsTer11
XM_011522456.1:c.1864_1868del	XP_011520758.1:p.Asp622PhefsTer11
XM_011522457.1:c.1765_1769del	XP_011520759.1:p.Asp589PhefsTer11
XM_011522458.1:c.1552_1556del	XP_011520760.1:p.Asp518PhefsTer11
XM_011522459.1:c.1552_1556del	XP_011520761.1:p.Asp518PhefsTer11
XM_011522460.1:c.1552_1556del	XP_011520762.1:p.Asp518PhefsTer11
XM_011522461.1:c.2023_2027del	XP_011520763.1:p.Asp675PhefsTer11
XM_011522458.3:c.1552_1556del	XP_011520760.1:p.Asp518PhefsTer11
XM_011522461.3:c.2023_2027del	XP_011520763.1:p.Asp675PhefsTer11
XM_017023172.1:c.2179_2183del	XP_016878661.1:p.Asp727PhefsTer11
XM_017023173.1:c.2179_2183del	XP_016878662.1:p.Asp727PhefsTer11
NM_001134407.3:c.2023_2027del MANE Select	NP_001127879.1:p.Asp675PhefsTer11
NM_000833.5:c.2023_2027del	NP_000824.1:p.Asp675PhefsTer11