Canonical Allele Identifier: CA394798203

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2044756608
• gnomAD v3: 16-9938038-A-G
• gnomAD v4: 16-9938038-A-G
• MyVariant Identifiers: chr16:g.10031895A>G (hg19) ; chr16:g.9938038A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938038A>G , CM000678.2:g.9938038A>G	GRCh38
NC_000016.9:g.10031895A>G , CM000678.1:g.10031895A>G	GRCh37
NC_000016.8:g.9939396A>G	NCBI36
NG_011812.1:g.249717T>C
NG_011812.2:g.249717T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.928T>C MANE Select	ENSP00000332549.3:p.Phe310Leu
ENST00000535259.6:c.457T>C	ENSP00000441572.3:p.Phe153Leu
ENST00000636273.2:n.521T>C
ENST00000637393.1:c.520T>C	ENSP00000490232.1:p.Phe174Leu
ENST00000674742.1:c.457T>C	ENSP00000502200.1:p.Phe153Leu
ENST00000675189.1:n.1412T>C
ENST00000675398.1:c.928T>C	ENSP00000502752.1:p.Phe310Leu
ENST00000330684.3:c.928T>C	ENSP00000332549.3:p.Phe310Leu
ENST00000396573.6:c.928T>C	ENSP00000379818.2:p.Phe310Leu
ENST00000396575.6:c.517T>C	ENSP00000379820.3:p.Phe173Leu
ENST00000461292.3:n.567T>C
ENST00000535259.5:c.517T>C	ENSP00000441572.2:p.Phe173Leu
ENST00000562109.5:c.928T>C	ENSP00000454998.1:p.Phe310Leu
ENST00000566683.1:n.241-46938T>C
ENST00000568247.3:n.820T>C
NM_000833.4:c.928T>C	NP_000824.1:p.Phe310Leu
NM_001134407.2:c.928T>C	NP_001127879.1:p.Phe310Leu
NM_001134408.2:c.928T>C	NP_001127880.1:p.Phe310Leu
XM_011522456.1:c.769T>C	XP_011520758.1:p.Phe257Leu
XM_011522457.1:c.670T>C	XP_011520759.1:p.Phe224Leu
XM_011522458.1:c.457T>C	XP_011520760.1:p.Phe153Leu
XM_011522459.1:c.457T>C	XP_011520761.1:p.Phe153Leu
XM_011522460.1:c.457T>C	XP_011520762.1:p.Phe153Leu
XM_011522461.1:c.928T>C	XP_011520763.1:p.Phe310Leu
XM_011522458.3:c.457T>C	XP_011520760.1:p.Phe153Leu
XM_011522461.3:c.928T>C	XP_011520763.1:p.Phe310Leu
XM_017023172.1:c.1084T>C	XP_016878661.1:p.Phe362Leu
XM_017023173.1:c.1084T>C	XP_016878662.1:p.Phe362Leu
NM_001134407.3:c.928T>C MANE Select	NP_001127879.1:p.Phe310Leu
NM_000833.5:c.928T>C	NP_000824.1:p.Phe310Leu