Canonical Allele Identifier: CA394705023

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2141124473
• gnomAD v4: 16-9763159-G-C
• COSMIC: COSM109646
• MyVariant Identifiers: chr16:g.9857016G>C (hg19) ; chr16:g.9763159G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763159G>C , CM000678.2:g.9763159G>C	GRCh38
NC_000016.9:g.9857016G>C , CM000678.1:g.9857016G>C	GRCh37
NC_000016.8:g.9764517G>C	NCBI36
NG_011812.1:g.424596C>G
NG_011812.2:g.424596C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4385C>G MANE Select	ENSP00000332549.3:p.Ser1462Cys
ENST00000535259.6:c.*196C>G	ENSP00000441572.3:n.*196C>G
ENST00000636273.2:n.3635C>G
ENST00000674742.1:c.3914C>G	ENSP00000502200.1:p.Ser1305Cys
ENST00000675398.1:c.*1755C>G	ENSP00000502752.1:n.*1755C>G
ENST00000330684.3:c.4385C>G	ENSP00000332549.3:p.Ser1462Cys
ENST00000396573.6:c.4385C>G	ENSP00000379818.2:p.Ser1462Cys
ENST00000396575.6:c.3974C>G	ENSP00000379820.3:p.Ser1325Cys
ENST00000461292.3:n.3681C>G
ENST00000535259.5:c.*196C>G	ENSP00000441572.2:n.*196C>G
ENST00000562109.5:c.*196C>G	ENSP00000454998.1:n.*196C>G
NM_000833.4:c.4385C>G	NP_000824.1:p.Ser1462Cys
NM_001134407.2:c.4385C>G	NP_001127879.1:p.Ser1462Cys
NM_001134408.2:c.*196C>G	NP_001127880.1:n.*196C>G
XM_011522456.1:c.4226C>G	XP_011520758.1:p.Ser1409Cys
XM_011522457.1:c.4127C>G	XP_011520759.1:p.Ser1376Cys
XM_011522458.1:c.3914C>G	XP_011520760.1:p.Ser1305Cys
XM_011522459.1:c.3914C>G	XP_011520761.1:p.Ser1305Cys
XM_011522460.1:c.3914C>G	XP_011520762.1:p.Ser1305Cys
XM_011522461.1:c.*196C>G	XP_011520763.1:n.*196C>G
XM_011522458.3:c.3914C>G	XP_011520760.1:p.Ser1305Cys
XM_011522461.3:c.*196C>G	XP_011520763.1:n.*196C>G
XM_017023172.1:c.4541C>G	XP_016878661.1:p.Ser1514Cys
XM_017023173.1:c.*196C>G	XP_016878662.1:n.*196C>G
NM_001134407.3:c.4385C>G MANE Select	NP_001127879.1:p.Ser1462Cys
NM_000833.5:c.4385C>G	NP_000824.1:p.Ser1462Cys