Canonical Allele Identifier: CA7896438

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 423738
• ClinVar RCV Id: RCV000479065 ; RCV003372728
• dbSNP Id: rs759145938
• ExAC: 16:9858705 C / T
• gnomAD v2: 16-9858705-C-T
• gnomAD v3: 16-9764848-C-T
• gnomAD v4: 16-9764848-C-T
• COSMIC: COSM5990946
• MyVariant Identifiers: chr16:g.9858705C>T (hg19) ; chr16:g.9764848C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764848C>T , CM000678.2:g.9764848C>T	GRCh38
NC_000016.9:g.9858705C>T , CM000678.1:g.9858705C>T	GRCh37
NC_000016.8:g.9766206C>T	NCBI36
NG_011812.1:g.422907G>A
NG_011812.2:g.422907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2696G>A MANE Select	ENSP00000332549.3:p.Arg899Gln
ENST00000535259.6:c.2225G>A	ENSP00000441572.3:p.Arg742Gln
ENST00000636273.2:n.2289G>A
ENST00000674742.1:c.2225G>A	ENSP00000502200.1:p.Arg742Gln
ENST00000675398.1:c.*66G>A	ENSP00000502752.1:n.*66G>A
ENST00000330684.3:c.2696G>A	ENSP00000332549.3:p.Arg899Gln
ENST00000396573.6:c.2696G>A	ENSP00000379818.2:p.Arg899Gln
ENST00000396575.6:c.2285G>A	ENSP00000379820.3:p.Arg762Gln
ENST00000461292.3:n.2335G>A
ENST00000463531.1:n.479G>A
ENST00000535259.5:c.2285G>A	ENSP00000441572.2:p.Arg762Gln
ENST00000562109.5:c.2696G>A	ENSP00000454998.1:p.Arg899Gln
NM_000833.4:c.2696G>A	NP_000824.1:p.Arg899Gln
NM_001134407.2:c.2696G>A	NP_001127879.1:p.Arg899Gln
NM_001134408.2:c.2696G>A	NP_001127880.1:p.Arg899Gln
XM_011522456.1:c.2537G>A	XP_011520758.1:p.Arg846Gln
XM_011522457.1:c.2438G>A	XP_011520759.1:p.Arg813Gln
XM_011522458.1:c.2225G>A	XP_011520760.1:p.Arg742Gln
XM_011522459.1:c.2225G>A	XP_011520761.1:p.Arg742Gln
XM_011522460.1:c.2225G>A	XP_011520762.1:p.Arg742Gln
XM_011522461.1:c.2696G>A	XP_011520763.1:p.Arg899Gln
XM_011522458.3:c.2225G>A	XP_011520760.1:p.Arg742Gln
XM_011522461.3:c.2696G>A	XP_011520763.1:p.Arg899Gln
XM_017023172.1:c.2852G>A	XP_016878661.1:p.Arg951Gln
XM_017023173.1:c.2852G>A	XP_016878662.1:p.Arg951Gln
NM_001134407.3:c.2696G>A MANE Select	NP_001127879.1:p.Arg899Gln
NM_000833.5:c.2696G>A	NP_000824.1:p.Arg899Gln