Canonical Allele Identifier: CA493692785

Gene: GRIN2A

Linked Data

• dbSNP Id: rs1900691662
• gnomAD v2: 16-9857379-CT-C
• COSMIC: COSM1380652
• MyVariant Identifiers: chr16:g.9857380del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763529del , CM000678.2:g.9763529del	GRCh38
NC_000016.9:g.9857386del , CM000678.1:g.9857386del	GRCh37
NC_000016.8:g.9764887del	NCBI36
NG_011812.1:g.424232del
NG_011812.2:g.424232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4021del MANE Select	ENSP00000332549.3:p.Ser1341AlafsTer?
ENST00000535259.6:c.3302-95del	ENSP00000441572.3:n.3302-95del
ENST00000636273.2:n.3366-95del
ENST00000674742.1:c.3550del	ENSP00000502200.1:p.Ser1184AlafsTer?
ENST00000675398.1:c.*1391del	ENSP00000502752.1:n.*1391del
ENST00000330684.3:c.4021del	ENSP00000332549.3:p.Ser1341AlafsTer?
ENST00000396573.6:c.4021del	ENSP00000379818.2:p.Ser1341AlafsTer?
ENST00000396575.6:c.3610del	ENSP00000379820.3:p.Ser1204AlafsTer?
ENST00000461292.3:n.3412-95del
ENST00000535259.5:c.3362-95del	ENSP00000441572.2:n.3362-95del
ENST00000562109.5:c.3773-95del	ENSP00000454998.1:n.3773-95del
NM_000833.4:c.4021del	NP_000824.1:p.Ser1341AlafsTer?
NM_001134407.2:c.4021del	NP_001127879.1:p.Ser1341AlafsTer?
NM_001134408.2:c.3773-95del	NP_001127880.1:n.3773-95del
XM_011522456.1:c.3862del	XP_011520758.1:p.Ser1288AlafsTer?
XM_011522457.1:c.3763del	XP_011520759.1:p.Ser1255AlafsTer?
XM_011522458.1:c.3550del	XP_011520760.1:p.Ser1184AlafsTer?
XM_011522459.1:c.3550del	XP_011520761.1:p.Ser1184AlafsTer?
XM_011522460.1:c.3550del	XP_011520762.1:p.Ser1184AlafsTer?
XM_011522461.1:c.3773-95del	XP_011520763.1:n.3773-95del
XM_011522458.3:c.3550del	XP_011520760.1:p.Ser1184AlafsTer?
XM_011522461.3:c.3773-95del	XP_011520763.1:n.3773-95del
XM_017023172.1:c.4177del	XP_016878661.1:p.Ser1393AlafsTer?
XM_017023173.1:c.3929-95del	XP_016878662.1:n.3929-95del
NM_001134407.3:c.4021del MANE Select	NP_001127879.1:p.Ser1341AlafsTer?
NM_000833.5:c.4021del	NP_000824.1:p.Ser1341AlafsTer?