Canonical Allele Identifier: CA7896232

Gene: GRIN2A

Linked Data

• dbSNP Id: rs772340081
• ExAC: 16:9857469 A / C
• gnomAD v2: 16-9857469-A-C
• gnomAD v3: 16-9763612-A-C
• gnomAD v4: 16-9763612-A-C
• MyVariant Identifiers: chr16:g.9857469A>C (hg19) ; chr16:g.9763612A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763612A>C , CM000678.2:g.9763612A>C	GRCh38
NC_000016.9:g.9857469A>C , CM000678.1:g.9857469A>C	GRCh37
NC_000016.8:g.9764970A>C	NCBI36
NG_011812.1:g.424143T>G
NG_011812.2:g.424143T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3932T>G MANE Select	ENSP00000332549.3:p.Ile1311Arg
ENST00000535259.6:c.3301+160T>G	ENSP00000441572.3:n.3301+160T>G
ENST00000636273.2:n.3365+160T>G
ENST00000674742.1:c.3461T>G	ENSP00000502200.1:p.Ile1154Arg
ENST00000675398.1:c.*1302T>G	ENSP00000502752.1:n.*1302T>G
ENST00000330684.3:c.3932T>G	ENSP00000332549.3:p.Ile1311Arg
ENST00000396573.6:c.3932T>G	ENSP00000379818.2:p.Ile1311Arg
ENST00000396575.6:c.3521T>G	ENSP00000379820.3:p.Ile1174Arg
ENST00000461292.3:n.3411+160T>G
ENST00000535259.5:c.3361+160T>G	ENSP00000441572.2:n.3361+160T>G
ENST00000562109.5:c.3772+160T>G	ENSP00000454998.1:n.3772+160T>G
NM_000833.4:c.3932T>G	NP_000824.1:p.Ile1311Arg
NM_001134407.2:c.3932T>G	NP_001127879.1:p.Ile1311Arg
NM_001134408.2:c.3772+160T>G	NP_001127880.1:n.3772+160T>G
XM_011522456.1:c.3773T>G	XP_011520758.1:p.Ile1258Arg
XM_011522457.1:c.3674T>G	XP_011520759.1:p.Ile1225Arg
XM_011522458.1:c.3461T>G	XP_011520760.1:p.Ile1154Arg
XM_011522459.1:c.3461T>G	XP_011520761.1:p.Ile1154Arg
XM_011522460.1:c.3461T>G	XP_011520762.1:p.Ile1154Arg
XM_011522461.1:c.3772+160T>G	XP_011520763.1:n.3772+160T>G
XM_011522458.3:c.3461T>G	XP_011520760.1:p.Ile1154Arg
XM_011522461.3:c.3772+160T>G	XP_011520763.1:n.3772+160T>G
XM_017023172.1:c.4088T>G	XP_016878661.1:p.Ile1363Arg
XM_017023173.1:c.3928+160T>G	XP_016878662.1:n.3928+160T>G
NM_001134407.3:c.3932T>G MANE Select	NP_001127879.1:p.Ile1311Arg
NM_000833.5:c.3932T>G	NP_000824.1:p.Ile1311Arg