Canonical Allele Identifier: CA394706036

Gene: GRIN2A

Linked Data

• dbSNP Id: rs1328526628
• gnomAD v4: 16-9763419-T-C
• MyVariant Identifiers: chr16:g.9857276T>C (hg19) ; chr16:g.9763419T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763419T>C , CM000678.2:g.9763419T>C	GRCh38
NC_000016.9:g.9857276T>C , CM000678.1:g.9857276T>C	GRCh37
NC_000016.8:g.9764777T>C	NCBI36
NG_011812.1:g.424336A>G
NG_011812.2:g.424336A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4125A>G MANE Select	ENSP00000332549.3:p.Gln1375=
ENST00000535259.6:c.3311A>G	ENSP00000441572.3:p.Asn1104Ser
ENST00000636273.2:n.3375A>G
ENST00000674742.1:c.3654A>G	ENSP00000502200.1:p.Gln1218=
ENST00000675398.1:c.*1495A>G	ENSP00000502752.1:n.*1495A>G
ENST00000330684.3:c.4125A>G	ENSP00000332549.3:p.Gln1375=
ENST00000396573.6:c.4125A>G	ENSP00000379818.2:p.Gln1375=
ENST00000396575.6:c.3714A>G	ENSP00000379820.3:p.Gln1238=
ENST00000461292.3:n.3421A>G
ENST00000535259.5:c.3371A>G	ENSP00000441572.2:p.Asn1124Ser
ENST00000562109.5:c.3782A>G	ENSP00000454998.1:p.Asn1261Ser
NM_000833.4:c.4125A>G	NP_000824.1:p.Gln1375=
NM_001134407.2:c.4125A>G	NP_001127879.1:p.Gln1375=
NM_001134408.2:c.3782A>G	NP_001127880.1:p.Asn1261Ser
XM_011522456.1:c.3966A>G	XP_011520758.1:p.Gln1322=
XM_011522457.1:c.3867A>G	XP_011520759.1:p.Gln1289=
XM_011522458.1:c.3654A>G	XP_011520760.1:p.Gln1218=
XM_011522459.1:c.3654A>G	XP_011520761.1:p.Gln1218=
XM_011522460.1:c.3654A>G	XP_011520762.1:p.Gln1218=
XM_011522461.1:c.3782A>G	XP_011520763.1:p.Asn1261Ser
XM_011522458.3:c.3654A>G	XP_011520760.1:p.Gln1218=
XM_011522461.3:c.3782A>G	XP_011520763.1:p.Asn1261Ser
XM_017023172.1:c.4281A>G	XP_016878661.1:p.Gln1427=
XM_017023173.1:c.3938A>G	XP_016878662.1:p.Asn1313Ser
NM_001134407.3:c.4125A>G MANE Select	NP_001127879.1:p.Gln1375=
NM_000833.5:c.4125A>G	NP_000824.1:p.Gln1375=