Canonical Allele Identifier: CA394706032

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 532712
• ClinVar RCV Id: RCV000639582
• dbSNP Id: rs1426934537
• gnomAD v2: 16-9857275-G-A
• gnomAD v4: 16-9763418-G-A
• COSMIC: COSM3795252
• MyVariant Identifiers: chr16:g.9857275G>A (hg19) ; chr16:g.9763418G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763418G>A , CM000678.2:g.9763418G>A	GRCh38
NC_000016.9:g.9857275G>A , CM000678.1:g.9857275G>A	GRCh37
NC_000016.8:g.9764776G>A	NCBI36
NG_011812.1:g.424337C>T
NG_011812.2:g.424337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4126C>T MANE Select	ENSP00000332549.3:p.Arg1376Cys
ENST00000535259.6:c.3312C>T	ENSP00000441572.3:p.Asn1104=
ENST00000636273.2:n.3376C>T
ENST00000674742.1:c.3655C>T	ENSP00000502200.1:p.Arg1219Cys
ENST00000675398.1:c.*1496C>T	ENSP00000502752.1:n.*1496C>T
ENST00000330684.3:c.4126C>T	ENSP00000332549.3:p.Arg1376Cys
ENST00000396573.6:c.4126C>T	ENSP00000379818.2:p.Arg1376Cys
ENST00000396575.6:c.3715C>T	ENSP00000379820.3:p.Arg1239Cys
ENST00000461292.3:n.3422C>T
ENST00000535259.5:c.3372C>T	ENSP00000441572.2:p.Asn1124=
ENST00000562109.5:c.3783C>T	ENSP00000454998.1:p.Asn1261=
NM_000833.4:c.4126C>T	NP_000824.1:p.Arg1376Cys
NM_001134407.2:c.4126C>T	NP_001127879.1:p.Arg1376Cys
NM_001134408.2:c.3783C>T	NP_001127880.1:p.Asn1261=
XM_011522456.1:c.3967C>T	XP_011520758.1:p.Arg1323Cys
XM_011522457.1:c.3868C>T	XP_011520759.1:p.Arg1290Cys
XM_011522458.1:c.3655C>T	XP_011520760.1:p.Arg1219Cys
XM_011522459.1:c.3655C>T	XP_011520761.1:p.Arg1219Cys
XM_011522460.1:c.3655C>T	XP_011520762.1:p.Arg1219Cys
XM_011522461.1:c.3783C>T	XP_011520763.1:p.Asn1261=
XM_011522458.3:c.3655C>T	XP_011520760.1:p.Arg1219Cys
XM_011522461.3:c.3783C>T	XP_011520763.1:p.Asn1261=
XM_017023172.1:c.4282C>T	XP_016878661.1:p.Arg1428Cys
XM_017023173.1:c.3939C>T	XP_016878662.1:p.Asn1313=
NM_001134407.3:c.4126C>T MANE Select	NP_001127879.1:p.Arg1376Cys
NM_000833.5:c.4126C>T	NP_000824.1:p.Arg1376Cys