Canonical Allele Identifier: CA7896895

Gene: GRIN2A

Linked Data

• dbSNP Id: rs778849362
• ExAC: 16:10032007 A / T
• gnomAD v2: 16-10032007-A-T
• gnomAD v4: 16-9938150-A-T
• MyVariant Identifiers: chr16:g.10032007A>T (hg19) ; chr16:g.9938150A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938150A>T , CM000678.2:g.9938150A>T	GRCh38
NC_000016.9:g.10032007A>T , CM000678.1:g.10032007A>T	GRCh37
NC_000016.8:g.9939508A>T	NCBI36
NG_011812.1:g.249605T>A
NG_011812.2:g.249605T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.816T>A MANE Select	ENSP00000332549.3:p.Phe272Leu
ENST00000535259.6:c.345T>A	ENSP00000441572.3:p.Phe115Leu
ENST00000636273.2:n.409T>A
ENST00000637393.1:c.408T>A	ENSP00000490232.1:p.Phe136Leu
ENST00000674742.1:c.345T>A	ENSP00000502200.1:p.Phe115Leu
ENST00000675189.1:n.1300T>A
ENST00000675398.1:c.816T>A	ENSP00000502752.1:p.Phe272Leu
ENST00000330684.3:c.816T>A	ENSP00000332549.3:p.Phe272Leu
ENST00000396573.6:c.816T>A	ENSP00000379818.2:p.Phe272Leu
ENST00000396575.6:c.405T>A	ENSP00000379820.3:p.Phe135Leu
ENST00000461292.3:n.455T>A
ENST00000535259.5:c.405T>A	ENSP00000441572.2:p.Phe135Leu
ENST00000562109.5:c.816T>A	ENSP00000454998.1:p.Phe272Leu
ENST00000566683.1:n.241-47050T>A
ENST00000568247.3:n.708T>A
NM_000833.4:c.816T>A	NP_000824.1:p.Phe272Leu
NM_001134407.2:c.816T>A	NP_001127879.1:p.Phe272Leu
NM_001134408.2:c.816T>A	NP_001127880.1:p.Phe272Leu
XM_011522456.1:c.657T>A	XP_011520758.1:p.Phe219Leu
XM_011522457.1:c.558T>A	XP_011520759.1:p.Phe186Leu
XM_011522458.1:c.345T>A	XP_011520760.1:p.Phe115Leu
XM_011522459.1:c.345T>A	XP_011520761.1:p.Phe115Leu
XM_011522460.1:c.345T>A	XP_011520762.1:p.Phe115Leu
XM_011522461.1:c.816T>A	XP_011520763.1:p.Phe272Leu
XM_011522458.3:c.345T>A	XP_011520760.1:p.Phe115Leu
XM_011522461.3:c.816T>A	XP_011520763.1:p.Phe272Leu
XM_017023172.1:c.972T>A	XP_016878661.1:p.Phe324Leu
XM_017023173.1:c.972T>A	XP_016878662.1:p.Phe324Leu
NM_001134407.3:c.816T>A MANE Select	NP_001127879.1:p.Phe272Leu
NM_000833.5:c.816T>A	NP_000824.1:p.Phe272Leu