Canonical Allele Identifier: CA7896404

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 431873
• ClinVar RCV Id: RCV001121857 ; RCV001722416
• dbSNP Id: rs148669437
• ExAC: 16:9858492 C / T
• gnomAD v2: 16-9858492-C-T
• gnomAD v3: 16-9764635-C-T
• gnomAD v4: 16-9764635-C-T
• MyVariant Identifiers: chr16:g.9858492C>T (hg19) ; chr16:g.9764635C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764635C>T , CM000678.2:g.9764635C>T	GRCh38
NC_000016.9:g.9858492C>T , CM000678.1:g.9858492C>T	GRCh37
NC_000016.8:g.9765993C>T	NCBI36
NG_011812.1:g.423120G>A
NG_011812.2:g.423120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2909G>A MANE Select	ENSP00000332549.3:p.Arg970Gln
ENST00000535259.6:c.2438G>A	ENSP00000441572.3:p.Arg813Gln
ENST00000636273.2:n.2502G>A
ENST00000674742.1:c.2438G>A	ENSP00000502200.1:p.Arg813Gln
ENST00000675398.1:c.*279G>A	ENSP00000502752.1:n.*279G>A
ENST00000330684.3:c.2909G>A	ENSP00000332549.3:p.Arg970Gln
ENST00000396573.6:c.2909G>A	ENSP00000379818.2:p.Arg970Gln
ENST00000396575.6:c.2498G>A	ENSP00000379820.3:p.Arg833Gln
ENST00000461292.3:n.2548G>A
ENST00000535259.5:c.2498G>A	ENSP00000441572.2:p.Arg833Gln
ENST00000562109.5:c.2909G>A	ENSP00000454998.1:p.Arg970Gln
NM_000833.4:c.2909G>A	NP_000824.1:p.Arg970Gln
NM_001134407.2:c.2909G>A	NP_001127879.1:p.Arg970Gln
NM_001134408.2:c.2909G>A	NP_001127880.1:p.Arg970Gln
XM_011522456.1:c.2750G>A	XP_011520758.1:p.Arg917Gln
XM_011522457.1:c.2651G>A	XP_011520759.1:p.Arg884Gln
XM_011522458.1:c.2438G>A	XP_011520760.1:p.Arg813Gln
XM_011522459.1:c.2438G>A	XP_011520761.1:p.Arg813Gln
XM_011522460.1:c.2438G>A	XP_011520762.1:p.Arg813Gln
XM_011522461.1:c.2909G>A	XP_011520763.1:p.Arg970Gln
XM_011522458.3:c.2438G>A	XP_011520760.1:p.Arg813Gln
XM_011522461.3:c.2909G>A	XP_011520763.1:p.Arg970Gln
XM_017023172.1:c.3065G>A	XP_016878661.1:p.Arg1022Gln
XM_017023173.1:c.3065G>A	XP_016878662.1:p.Arg1022Gln
NM_001134407.3:c.2909G>A MANE Select	NP_001127879.1:p.Arg970Gln
NM_000833.5:c.2909G>A	NP_000824.1:p.Arg970Gln