Canonical Allele Identifier: CA394798592

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2430603
• ClinVar RCV Id: RCV003129136
• dbSNP Id: rs1473377043
• gnomAD v2: 16-10032075-C-T
• gnomAD v3: 16-9938218-C-T
• gnomAD v4: 16-9938218-C-T
• COSMIC: COSM3672150
• MyVariant Identifiers: chr16:g.10032075C>T (hg19) ; chr16:g.9938218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938218C>T , CM000678.2:g.9938218C>T	GRCh38
NC_000016.9:g.10032075C>T , CM000678.1:g.10032075C>T	GRCh37
NC_000016.8:g.9939576C>T	NCBI36
NG_011812.1:g.249537G>A
NG_011812.2:g.249537G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.748G>A MANE Select	ENSP00000332549.3:p.Gly250Arg
ENST00000535259.6:c.277G>A	ENSP00000441572.3:p.Gly93Arg
ENST00000636273.2:n.341G>A
ENST00000637393.1:c.340G>A	ENSP00000490232.1:p.Gly114Arg
ENST00000674742.1:c.277G>A	ENSP00000502200.1:p.Gly93Arg
ENST00000675189.1:n.1232G>A
ENST00000675398.1:c.748G>A	ENSP00000502752.1:p.Gly250Arg
ENST00000330684.3:c.748G>A	ENSP00000332549.3:p.Gly250Arg
ENST00000396573.6:c.748G>A	ENSP00000379818.2:p.Gly250Arg
ENST00000396575.6:c.337G>A	ENSP00000379820.3:p.Gly113Arg
ENST00000461292.3:n.387G>A
ENST00000535259.5:c.337G>A	ENSP00000441572.2:p.Gly113Arg
ENST00000562109.5:c.748G>A	ENSP00000454998.1:p.Gly250Arg
ENST00000566670.2:n.590G>A
ENST00000566683.1:n.241-47118G>A
ENST00000568247.3:n.640G>A
NM_000833.4:c.748G>A	NP_000824.1:p.Gly250Arg
NM_001134407.2:c.748G>A	NP_001127879.1:p.Gly250Arg
NM_001134408.2:c.748G>A	NP_001127880.1:p.Gly250Arg
XM_011522456.1:c.589G>A	XP_011520758.1:p.Gly197Arg
XM_011522457.1:c.490G>A	XP_011520759.1:p.Gly164Arg
XM_011522458.1:c.277G>A	XP_011520760.1:p.Gly93Arg
XM_011522459.1:c.277G>A	XP_011520761.1:p.Gly93Arg
XM_011522460.1:c.277G>A	XP_011520762.1:p.Gly93Arg
XM_011522461.1:c.748G>A	XP_011520763.1:p.Gly250Arg
XM_011522458.3:c.277G>A	XP_011520760.1:p.Gly93Arg
XM_011522461.3:c.748G>A	XP_011520763.1:p.Gly250Arg
XM_017023172.1:c.904G>A	XP_016878661.1:p.Gly302Arg
XM_017023173.1:c.904G>A	XP_016878662.1:p.Gly302Arg
NM_001134407.3:c.748G>A MANE Select	NP_001127879.1:p.Gly250Arg
NM_000833.5:c.748G>A	NP_000824.1:p.Gly250Arg