Canonical Allele Identifier: CA2631677288

Gene: GRIN2A

Linked Data

• gnomAD v4: 16-9840785-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9840785_9840786insG , CM000678.2:g.9840785_9840786insG	GRCh38
NC_000016.9:g.9934642_9934643insG , CM000678.1:g.9934642_9934643insG	GRCh37
NC_000016.8:g.9842143_9842144insG	NCBI36
NG_011812.1:g.346969_346970insC
NG_011812.2:g.346969_346970insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.1512_1513insC MANE Select	ENSP00000332549.3:p.Ala505ArgfsTer12
ENST00000535259.6:c.1041_1042insC	ENSP00000441572.3:p.Ala348ArgfsTer12
ENST00000636273.2:n.1105_1106insC
ENST00000674742.1:c.1041_1042insC	ENSP00000502200.1:p.Ala348ArgfsTer12
ENST00000675189.1:n.1996_1997insC
ENST00000675398.1:c.1512_1513insC	ENSP00000502752.1:p.Ala505ArgfsTer12
ENST00000330684.3:c.1512_1513insC	ENSP00000332549.3:p.Ala505ArgfsTer12
ENST00000396573.6:c.1512_1513insC	ENSP00000379818.2:p.Ala505ArgfsTer12
ENST00000396575.6:c.1101_1102insC	ENSP00000379820.3:p.Ala368ArgfsTer12
ENST00000461292.3:n.1151_1152insC
ENST00000535259.5:c.1101_1102insC	ENSP00000441572.2:p.Ala368ArgfsTer12
ENST00000562109.5:c.1512_1513insC	ENSP00000454998.1:p.Ala505ArgfsTer12
NM_000833.4:c.1512_1513insC	NP_000824.1:p.Ala505ArgfsTer12
NM_001134407.2:c.1512_1513insC	NP_001127879.1:p.Ala505ArgfsTer12
NM_001134408.2:c.1512_1513insC	NP_001127880.1:p.Ala505ArgfsTer12
XM_011522456.1:c.1353_1354insC	XP_011520758.1:p.Ala452ArgfsTer12
XM_011522457.1:c.1254_1255insC	XP_011520759.1:p.Ala419ArgfsTer12
XM_011522458.1:c.1041_1042insC	XP_011520760.1:p.Ala348ArgfsTer12
XM_011522459.1:c.1041_1042insC	XP_011520761.1:p.Ala348ArgfsTer12
XM_011522460.1:c.1041_1042insC	XP_011520762.1:p.Ala348ArgfsTer12
XM_011522461.1:c.1512_1513insC	XP_011520763.1:p.Ala505ArgfsTer12
XM_011522458.3:c.1041_1042insC	XP_011520760.1:p.Ala348ArgfsTer12
XM_011522461.3:c.1512_1513insC	XP_011520763.1:p.Ala505ArgfsTer12
XM_017023172.1:c.1668_1669insC	XP_016878661.1:p.Ala557ArgfsTer12
XM_017023173.1:c.1668_1669insC	XP_016878662.1:p.Ala557ArgfsTer12
NM_001134407.3:c.1512_1513insC MANE Select	NP_001127879.1:p.Ala505ArgfsTer12
NM_000833.5:c.1512_1513insC	NP_000824.1:p.Ala505ArgfsTer12