Canonical Allele Identifier: CA493693807

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1099571
• ClinVar RCV Id: RCV001421887
• dbSNP Id: rs1334555320
• gnomAD v2: 16-10274125-C-T
• COSMIC: COSM3690682
• MyVariant Identifiers: chr16:g.10274125C>T (hg19) ; chr16:g.10180268C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180268C>T , CM000678.2:g.10180268C>T	GRCh38
NC_000016.9:g.10274125C>T , CM000678.1:g.10274125C>T	GRCh37
NC_000016.8:g.10181626C>T	NCBI36
NG_011812.1:g.7487G>A
NG_011812.2:g.7487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.144G>A MANE Select	ENSP00000332549.3:p.Glu48=
ENST00000675189.1:n.628G>A
ENST00000675398.1:c.144G>A	ENSP00000502752.1:p.Glu48=
ENST00000676032.1:n.577G>A
ENST00000330684.3:c.144G>A	ENSP00000332549.3:p.Glu48=
ENST00000396573.6:c.144G>A	ENSP00000379818.2:p.Glu48=
ENST00000562109.5:c.144G>A	ENSP00000454998.1:p.Glu48=
ENST00000566665.1:n.545G>A
NM_000833.4:c.144G>A	NP_000824.1:p.Glu48=
NM_001134407.2:c.144G>A	NP_001127879.1:p.Glu48=
NM_001134408.2:c.144G>A	NP_001127880.1:p.Glu48=
XM_011522461.1:c.144G>A	XP_011520763.1:p.Glu48=
XM_011522461.3:c.144G>A	XP_011520763.1:p.Glu48=
XM_017023172.1:c.300G>A	XP_016878661.1:p.Glu100=
XM_017023173.1:c.300G>A	XP_016878662.1:p.Glu100=
NM_001134407.3:c.144G>A MANE Select	NP_001127879.1:p.Glu48=
NM_000833.5:c.144G>A	NP_000824.1:p.Glu48=