Canonical Allele Identifier: CA7896237

Gene: GRIN2A

Linked Data

• dbSNP Id: rs762982217
• ExAC: 16:9857491 G / A
• gnomAD v2: 16-9857491-G-A
• MyVariant Identifiers: chr16:g.9857491G>A (hg19) ; chr16:g.9763634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763634G>A , CM000678.2:g.9763634G>A	GRCh38
NC_000016.9:g.9857491G>A , CM000678.1:g.9857491G>A	GRCh37
NC_000016.8:g.9764992G>A	NCBI36
NG_011812.1:g.424121C>T
NG_011812.2:g.424121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3910C>T MANE Select	ENSP00000332549.3:p.Leu1304Phe
ENST00000535259.6:c.3301+138C>T	ENSP00000441572.3:n.3301+138C>T
ENST00000636273.2:n.3365+138C>T
ENST00000674742.1:c.3439C>T	ENSP00000502200.1:p.Leu1147Phe
ENST00000675398.1:c.*1280C>T	ENSP00000502752.1:n.*1280C>T
ENST00000330684.3:c.3910C>T	ENSP00000332549.3:p.Leu1304Phe
ENST00000396573.6:c.3910C>T	ENSP00000379818.2:p.Leu1304Phe
ENST00000396575.6:c.3499C>T	ENSP00000379820.3:p.Leu1167Phe
ENST00000461292.3:n.3411+138C>T
ENST00000535259.5:c.3361+138C>T	ENSP00000441572.2:n.3361+138C>T
ENST00000562109.5:c.3772+138C>T	ENSP00000454998.1:n.3772+138C>T
NM_000833.4:c.3910C>T	NP_000824.1:p.Leu1304Phe
NM_001134407.2:c.3910C>T	NP_001127879.1:p.Leu1304Phe
NM_001134408.2:c.3772+138C>T	NP_001127880.1:n.3772+138C>T
XM_011522456.1:c.3751C>T	XP_011520758.1:p.Leu1251Phe
XM_011522457.1:c.3652C>T	XP_011520759.1:p.Leu1218Phe
XM_011522458.1:c.3439C>T	XP_011520760.1:p.Leu1147Phe
XM_011522459.1:c.3439C>T	XP_011520761.1:p.Leu1147Phe
XM_011522460.1:c.3439C>T	XP_011520762.1:p.Leu1147Phe
XM_011522461.1:c.3772+138C>T	XP_011520763.1:n.3772+138C>T
XM_011522458.3:c.3439C>T	XP_011520760.1:p.Leu1147Phe
XM_011522461.3:c.3772+138C>T	XP_011520763.1:n.3772+138C>T
XM_017023172.1:c.4066C>T	XP_016878661.1:p.Leu1356Phe
XM_017023173.1:c.3928+138C>T	XP_016878662.1:n.3928+138C>T
NM_001134407.3:c.3910C>T MANE Select	NP_001127879.1:p.Leu1304Phe
NM_000833.5:c.3910C>T	NP_000824.1:p.Leu1304Phe