Canonical Allele Identifier: CA394709356

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2672083
• ClinVar RCV Id: RCV003458185
• gnomAD v4: 16-9764756-G-C
• MyVariant Identifiers: chr16:g.9858613G>C (hg19) ; chr16:g.9764756G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764756G>C , CM000678.2:g.9764756G>C	GRCh38
NC_000016.9:g.9858613G>C , CM000678.1:g.9858613G>C	GRCh37
NC_000016.8:g.9766114G>C	NCBI36
NG_011812.1:g.422999C>G
NG_011812.2:g.422999C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2788C>G MANE Select	ENSP00000332549.3:p.Leu930Val
ENST00000535259.6:c.2317C>G	ENSP00000441572.3:p.Leu773Val
ENST00000636273.2:n.2381C>G
ENST00000674742.1:c.2317C>G	ENSP00000502200.1:p.Leu773Val
ENST00000675398.1:c.*158C>G	ENSP00000502752.1:n.*158C>G
ENST00000330684.3:c.2788C>G	ENSP00000332549.3:p.Leu930Val
ENST00000396573.6:c.2788C>G	ENSP00000379818.2:p.Leu930Val
ENST00000396575.6:c.2377C>G	ENSP00000379820.3:p.Leu793Val
ENST00000461292.3:n.2427C>G
ENST00000535259.5:c.2377C>G	ENSP00000441572.2:p.Leu793Val
ENST00000562109.5:c.2788C>G	ENSP00000454998.1:p.Leu930Val
NM_000833.4:c.2788C>G	NP_000824.1:p.Leu930Val
NM_001134407.2:c.2788C>G	NP_001127879.1:p.Leu930Val
NM_001134408.2:c.2788C>G	NP_001127880.1:p.Leu930Val
XM_011522456.1:c.2629C>G	XP_011520758.1:p.Leu877Val
XM_011522457.1:c.2530C>G	XP_011520759.1:p.Leu844Val
XM_011522458.1:c.2317C>G	XP_011520760.1:p.Leu773Val
XM_011522459.1:c.2317C>G	XP_011520761.1:p.Leu773Val
XM_011522460.1:c.2317C>G	XP_011520762.1:p.Leu773Val
XM_011522461.1:c.2788C>G	XP_011520763.1:p.Leu930Val
XM_011522458.3:c.2317C>G	XP_011520760.1:p.Leu773Val
XM_011522461.3:c.2788C>G	XP_011520763.1:p.Leu930Val
XM_017023172.1:c.2944C>G	XP_016878661.1:p.Leu982Val
XM_017023173.1:c.2944C>G	XP_016878662.1:p.Leu982Val
NM_001134407.3:c.2788C>G MANE Select	NP_001127879.1:p.Leu930Val
NM_000833.5:c.2788C>G	NP_000824.1:p.Leu930Val