Canonical Allele Identifier: CA394706040

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2141126404
• MyVariant Identifiers: chr16:g.9857277T>G (hg19) ; chr16:g.9763420T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763420T>G , CM000678.2:g.9763420T>G	GRCh38
NC_000016.9:g.9857277T>G , CM000678.1:g.9857277T>G	GRCh37
NC_000016.8:g.9764778T>G	NCBI36
NG_011812.1:g.424335A>C
NG_011812.2:g.424335A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4124A>C MANE Select	ENSP00000332549.3:p.Gln1375Pro
ENST00000535259.6:c.3310A>C	ENSP00000441572.3:p.Asn1104His
ENST00000636273.2:n.3374A>C
ENST00000674742.1:c.3653A>C	ENSP00000502200.1:p.Gln1218Pro
ENST00000675398.1:c.*1494A>C	ENSP00000502752.1:n.*1494A>C
ENST00000330684.3:c.4124A>C	ENSP00000332549.3:p.Gln1375Pro
ENST00000396573.6:c.4124A>C	ENSP00000379818.2:p.Gln1375Pro
ENST00000396575.6:c.3713A>C	ENSP00000379820.3:p.Gln1238Pro
ENST00000461292.3:n.3420A>C
ENST00000535259.5:c.3370A>C	ENSP00000441572.2:p.Asn1124His
ENST00000562109.5:c.3781A>C	ENSP00000454998.1:p.Asn1261His
NM_000833.4:c.4124A>C	NP_000824.1:p.Gln1375Pro
NM_001134407.2:c.4124A>C	NP_001127879.1:p.Gln1375Pro
NM_001134408.2:c.3781A>C	NP_001127880.1:p.Asn1261His
XM_011522456.1:c.3965A>C	XP_011520758.1:p.Gln1322Pro
XM_011522457.1:c.3866A>C	XP_011520759.1:p.Gln1289Pro
XM_011522458.1:c.3653A>C	XP_011520760.1:p.Gln1218Pro
XM_011522459.1:c.3653A>C	XP_011520761.1:p.Gln1218Pro
XM_011522460.1:c.3653A>C	XP_011520762.1:p.Gln1218Pro
XM_011522461.1:c.3781A>C	XP_011520763.1:p.Asn1261His
XM_011522458.3:c.3653A>C	XP_011520760.1:p.Gln1218Pro
XM_011522461.3:c.3781A>C	XP_011520763.1:p.Asn1261His
XM_017023172.1:c.4280A>C	XP_016878661.1:p.Gln1427Pro
XM_017023173.1:c.3937A>C	XP_016878662.1:p.Asn1313His
NM_001134407.3:c.4124A>C MANE Select	NP_001127879.1:p.Gln1375Pro
NM_000833.5:c.4124A>C	NP_000824.1:p.Gln1375Pro