Canonical Allele Identifier: CA7896215

Gene: GRIN2A

Linked Data

• dbSNP Id: rs763809945
• ExAC: 16:9857332 G / C
• gnomAD v2: 16-9857332-G-C
• gnomAD v4: 16-9763475-G-C
• MyVariant Identifiers: chr16:g.9857332G>C (hg19) ; chr16:g.9763475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763475G>C , CM000678.2:g.9763475G>C	GRCh38
NC_000016.9:g.9857332G>C , CM000678.1:g.9857332G>C	GRCh37
NC_000016.8:g.9764833G>C	NCBI36
NG_011812.1:g.424280C>G
NG_011812.2:g.424280C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4069C>G MANE Select	ENSP00000332549.3:p.Leu1357Val
ENST00000535259.6:c.3302-47C>G	ENSP00000441572.3:n.3302-47C>G
ENST00000636273.2:n.3366-47C>G
ENST00000674742.1:c.3598C>G	ENSP00000502200.1:p.Leu1200Val
ENST00000675398.1:c.*1439C>G	ENSP00000502752.1:n.*1439C>G
ENST00000330684.3:c.4069C>G	ENSP00000332549.3:p.Leu1357Val
ENST00000396573.6:c.4069C>G	ENSP00000379818.2:p.Leu1357Val
ENST00000396575.6:c.3658C>G	ENSP00000379820.3:p.Leu1220Val
ENST00000461292.3:n.3412-47C>G
ENST00000535259.5:c.3362-47C>G	ENSP00000441572.2:n.3362-47C>G
ENST00000562109.5:c.3773-47C>G	ENSP00000454998.1:n.3773-47C>G
NM_000833.4:c.4069C>G	NP_000824.1:p.Leu1357Val
NM_001134407.2:c.4069C>G	NP_001127879.1:p.Leu1357Val
NM_001134408.2:c.3773-47C>G	NP_001127880.1:n.3773-47C>G
XM_011522456.1:c.3910C>G	XP_011520758.1:p.Leu1304Val
XM_011522457.1:c.3811C>G	XP_011520759.1:p.Leu1271Val
XM_011522458.1:c.3598C>G	XP_011520760.1:p.Leu1200Val
XM_011522459.1:c.3598C>G	XP_011520761.1:p.Leu1200Val
XM_011522460.1:c.3598C>G	XP_011520762.1:p.Leu1200Val
XM_011522461.1:c.3773-47C>G	XP_011520763.1:n.3773-47C>G
XM_011522458.3:c.3598C>G	XP_011520760.1:p.Leu1200Val
XM_011522461.3:c.3773-47C>G	XP_011520763.1:n.3773-47C>G
XM_017023172.1:c.4225C>G	XP_016878661.1:p.Leu1409Val
XM_017023173.1:c.3929-47C>G	XP_016878662.1:n.3929-47C>G
NM_001134407.3:c.4069C>G MANE Select	NP_001127879.1:p.Leu1357Val
NM_000833.5:c.4069C>G	NP_000824.1:p.Leu1357Val