Canonical Allele Identifier: CA974532275

Gene: GRIN2A

Linked Data

• gnomAD v3: 16-9764203-C-CAG
• gnomAD v4: 16-9764203-C-CAG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764203_9764204insAG , CM000678.2:g.9764203_9764204insAG	GRCh38
NC_000016.9:g.9858060_9858061insAG , CM000678.1:g.9858060_9858061insAG	GRCh37
NC_000016.8:g.9765561_9765562insAG	NCBI36
NG_011812.1:g.423551_423552insCT
NG_011812.2:g.423551_423552insCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.3340_3341insCT MANE Select	ENSP00000332549.3:p.Arg1114ThrfsTer8
ENST00000535259.6:c.2869_2870insCT	ENSP00000441572.3:p.Arg957ThrfsTer8
ENST00000636273.2:n.2933_2934insCT
ENST00000674742.1:c.2869_2870insCT	ENSP00000502200.1:p.Arg957ThrfsTer8
ENST00000675398.1:c.*710_*711insCT	ENSP00000502752.1:n.*710_*711insCT
ENST00000330684.3:c.3340_3341insCT	ENSP00000332549.3:p.Arg1114ThrfsTer8
ENST00000396573.6:c.3340_3341insCT	ENSP00000379818.2:p.Arg1114ThrfsTer8
ENST00000396575.6:c.2929_2930insCT	ENSP00000379820.3:p.Arg977ThrfsTer8
ENST00000461292.3:n.2979_2980insCT
ENST00000535259.5:c.2929_2930insCT	ENSP00000441572.2:p.Arg977ThrfsTer8
ENST00000562109.5:c.3340_3341insCT	ENSP00000454998.1:p.Arg1114ThrfsTer8
NM_000833.4:c.3340_3341insCT	NP_000824.1:p.Arg1114ThrfsTer8
NM_001134407.2:c.3340_3341insCT	NP_001127879.1:p.Arg1114ThrfsTer8
NM_001134408.2:c.3340_3341insCT	NP_001127880.1:p.Arg1114ThrfsTer8
XM_011522456.1:c.3181_3182insCT	XP_011520758.1:p.Arg1061ThrfsTer8
XM_011522457.1:c.3082_3083insCT	XP_011520759.1:p.Arg1028ThrfsTer8
XM_011522458.1:c.2869_2870insCT	XP_011520760.1:p.Arg957ThrfsTer8
XM_011522459.1:c.2869_2870insCT	XP_011520761.1:p.Arg957ThrfsTer8
XM_011522460.1:c.2869_2870insCT	XP_011520762.1:p.Arg957ThrfsTer8
XM_011522461.1:c.3340_3341insCT	XP_011520763.1:p.Arg1114ThrfsTer8
XM_011522458.3:c.2869_2870insCT	XP_011520760.1:p.Arg957ThrfsTer8
XM_011522461.3:c.3340_3341insCT	XP_011520763.1:p.Arg1114ThrfsTer8
XM_017023172.1:c.3496_3497insCT	XP_016878661.1:p.Arg1166ThrfsTer8
XM_017023173.1:c.3496_3497insCT	XP_016878662.1:p.Arg1166ThrfsTer8
NM_001134407.3:c.3340_3341insCT MANE Select	NP_001127879.1:p.Arg1114ThrfsTer8
NM_000833.5:c.3340_3341insCT	NP_000824.1:p.Arg1114ThrfsTer8