Canonical Allele Identifier: CA394709553

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 807987
• ClinVar RCV Id: RCV000996203
• dbSNP Id: rs1596377696
• MyVariant Identifiers: chr16:g.9858703A>G (hg19) ; chr16:g.9764846A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764846A>G , CM000678.2:g.9764846A>G	GRCh38
NC_000016.9:g.9858703A>G , CM000678.1:g.9858703A>G	GRCh37
NC_000016.8:g.9766204A>G	NCBI36
NG_011812.1:g.422909T>C
NG_011812.2:g.422909T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2698T>C MANE Select	ENSP00000332549.3:p.Ser900Pro
ENST00000535259.6:c.2227T>C	ENSP00000441572.3:p.Ser743Pro
ENST00000636273.2:n.2291T>C
ENST00000674742.1:c.2227T>C	ENSP00000502200.1:p.Ser743Pro
ENST00000675398.1:c.*68T>C	ENSP00000502752.1:n.*68T>C
ENST00000330684.3:c.2698T>C	ENSP00000332549.3:p.Ser900Pro
ENST00000396573.6:c.2698T>C	ENSP00000379818.2:p.Ser900Pro
ENST00000396575.6:c.2287T>C	ENSP00000379820.3:p.Ser763Pro
ENST00000461292.3:n.2337T>C
ENST00000463531.1:n.481T>C
ENST00000535259.5:c.2287T>C	ENSP00000441572.2:p.Ser763Pro
ENST00000562109.5:c.2698T>C	ENSP00000454998.1:p.Ser900Pro
NM_000833.4:c.2698T>C	NP_000824.1:p.Ser900Pro
NM_001134407.2:c.2698T>C	NP_001127879.1:p.Ser900Pro
NM_001134408.2:c.2698T>C	NP_001127880.1:p.Ser900Pro
XM_011522456.1:c.2539T>C	XP_011520758.1:p.Ser847Pro
XM_011522457.1:c.2440T>C	XP_011520759.1:p.Ser814Pro
XM_011522458.1:c.2227T>C	XP_011520760.1:p.Ser743Pro
XM_011522459.1:c.2227T>C	XP_011520761.1:p.Ser743Pro
XM_011522460.1:c.2227T>C	XP_011520762.1:p.Ser743Pro
XM_011522461.1:c.2698T>C	XP_011520763.1:p.Ser900Pro
XM_011522458.3:c.2227T>C	XP_011520760.1:p.Ser743Pro
XM_011522461.3:c.2698T>C	XP_011520763.1:p.Ser900Pro
XM_017023172.1:c.2854T>C	XP_016878661.1:p.Ser952Pro
XM_017023173.1:c.2854T>C	XP_016878662.1:p.Ser952Pro
NM_001134407.3:c.2698T>C MANE Select	NP_001127879.1:p.Ser900Pro
NM_000833.5:c.2698T>C	NP_000824.1:p.Ser900Pro