Canonical Allele Identifier: CA2573152111
Gene: GRIN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1522166
ClinVar RCV Id: RCV002034288
dbSNP Id: rs2141124456

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9763153del , CM000678.2:g.9763153del GRCh38
NC_000016.9:g.9857010del , CM000678.1:g.9857010del GRCh37
NC_000016.8:g.9764511del NCBI36
NG_011812.1:g.424604del
NG_011812.2:g.424604del

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.4393del MANE Select ENSP00000332549.3:p.Ter1465LysextTer10
ENST00000535259.6:c.*204del ENSP00000441572.3:n.*204del
ENST00000636273.2:n.3643del
ENST00000674742.1:c.3922del ENSP00000502200.1:p.Ter1308LysextTer10
ENST00000675398.1:c.*1763del ENSP00000502752.1:n.*1763del
ENST00000330684.3:c.4393del ENSP00000332549.3:p.Ter1465LysextTer10
ENST00000396573.6:c.4393del ENSP00000379818.2:p.Ter1465LysextTer10
ENST00000396575.6:c.3982del ENSP00000379820.3:p.Ter1328LysextTer10
ENST00000461292.3:n.3689del
ENST00000535259.5:c.*204del ENSP00000441572.2:n.*204del
ENST00000562109.5:c.*204del ENSP00000454998.1:n.*204del
NM_000833.4:c.4393del NP_000824.1:p.Ter1465LysextTer10
NM_001134407.2:c.4393del NP_001127879.1:p.Ter1465LysextTer10
NM_001134408.2:c.*204del NP_001127880.1:n.*204del
XM_011522456.1:c.4234del XP_011520758.1:p.Ter1412LysextTer10
XM_011522457.1:c.4135del XP_011520759.1:p.Ter1379LysextTer10
XM_011522458.1:c.3922del XP_011520760.1:p.Ter1308LysextTer10
XM_011522459.1:c.3922del XP_011520761.1:p.Ter1308LysextTer10
XM_011522460.1:c.3922del XP_011520762.1:p.Ter1308LysextTer10
XM_011522461.1:c.*204del XP_011520763.1:n.*204del
XM_011522458.3:c.3922del XP_011520760.1:p.Ter1308LysextTer10
XM_011522461.3:c.*204del XP_011520763.1:n.*204del
XM_017023172.1:c.4549del XP_016878661.1:p.Ter1517LysextTer10
XM_017023173.1:c.*204del XP_016878662.1:n.*204del
NM_001134407.3:c.4393del MANE Select NP_001127879.1:p.Ter1465LysextTer10
NM_000833.5:c.4393del NP_000824.1:p.Ter1465LysextTer10