Canonical Allele Identifier: CA2631674864

Gene: GRIN2A

Linked Data

• gnomAD v4: 16-9763522-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763528_9763529del , CM000678.2:g.9763528_9763529del	GRCh38
NC_000016.9:g.9857385_9857386del , CM000678.1:g.9857385_9857386del	GRCh37
NC_000016.8:g.9764886_9764887del	NCBI36
NG_011812.1:g.424231_424232del
NG_011812.2:g.424231_424232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4020_4021del MANE Select	ENSP00000332549.3:p.Ser1341LeufsTer24
ENST00000535259.6:c.3302-96_3302-95del	ENSP00000441572.3:n.3302-96_3302-95del
ENST00000636273.2:n.3366-96_3366-95del
ENST00000674742.1:c.3549_3550del	ENSP00000502200.1:p.Ser1184LeufsTer24
ENST00000675398.1:c.*1390_*1391del	ENSP00000502752.1:n.*1390_*1391del
ENST00000330684.3:c.4020_4021del	ENSP00000332549.3:p.Ser1341LeufsTer24
ENST00000396573.6:c.4020_4021del	ENSP00000379818.2:p.Ser1341LeufsTer24
ENST00000396575.6:c.3609_3610del	ENSP00000379820.3:p.Ser1204LeufsTer24
ENST00000461292.3:n.3412-96_3412-95del
ENST00000535259.5:c.3362-96_3362-95del	ENSP00000441572.2:n.3362-96_3362-95del
ENST00000562109.5:c.3773-96_3773-95del	ENSP00000454998.1:n.3773-96_3773-95del
NM_000833.4:c.4020_4021del	NP_000824.1:p.Ser1341LeufsTer24
NM_001134407.2:c.4020_4021del	NP_001127879.1:p.Ser1341LeufsTer24
NM_001134408.2:c.3773-96_3773-95del	NP_001127880.1:n.3773-96_3773-95del
XM_011522456.1:c.3861_3862del	XP_011520758.1:p.Ser1288LeufsTer24
XM_011522457.1:c.3762_3763del	XP_011520759.1:p.Ser1255LeufsTer24
XM_011522458.1:c.3549_3550del	XP_011520760.1:p.Ser1184LeufsTer24
XM_011522459.1:c.3549_3550del	XP_011520761.1:p.Ser1184LeufsTer24
XM_011522460.1:c.3549_3550del	XP_011520762.1:p.Ser1184LeufsTer24
XM_011522461.1:c.3773-96_3773-95del	XP_011520763.1:n.3773-96_3773-95del
XM_011522458.3:c.3549_3550del	XP_011520760.1:p.Ser1184LeufsTer24
XM_011522461.3:c.3773-96_3773-95del	XP_011520763.1:n.3773-96_3773-95del
XM_017023172.1:c.4176_4177del	XP_016878661.1:p.Ser1393LeufsTer24
XM_017023173.1:c.3929-96_3929-95del	XP_016878662.1:n.3929-96_3929-95del
NM_001134407.3:c.4020_4021del MANE Select	NP_001127879.1:p.Ser1341LeufsTer24
NM_000833.5:c.4020_4021del	NP_000824.1:p.Ser1341LeufsTer24