Canonical Allele Identifier: CA394798014

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1709534
• ClinVar RCV Id: RCV002289349
• MyVariant Identifiers: chr16:g.9916283T>G (hg19) ; chr16:g.9822426T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9822426T>G , CM000678.2:g.9822426T>G	GRCh38
NC_000016.9:g.9916283T>G , CM000678.1:g.9916283T>G	GRCh37
NC_000016.8:g.9823784T>G	NCBI36
NG_011812.1:g.365329A>C
NG_011812.2:g.365329A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2008-2A>C MANE Select	ENSP00000332549.3:n.2008-2A>C
ENST00000535259.6:c.1537-2A>C	ENSP00000441572.3:n.1537-2A>C
ENST00000636273.2:n.1601-2A>C
ENST00000674742.1:c.1537-2A>C	ENSP00000502200.1:n.1537-2A>C
ENST00000675398.1:c.2008-2A>C	ENSP00000502752.1:n.2008-2A>C
ENST00000330684.3:c.2008-2A>C	ENSP00000332549.3:n.2008-2A>C
ENST00000396573.6:c.2008-2A>C	ENSP00000379818.2:n.2008-2A>C
ENST00000396575.6:c.1597-2A>C	ENSP00000379820.3:n.1597-2A>C
ENST00000461292.3:n.1647-2A>C
ENST00000535259.5:c.1597-2A>C	ENSP00000441572.2:n.1597-2A>C
ENST00000562109.5:c.2008-2A>C	ENSP00000454998.1:n.2008-2A>C
NM_000833.4:c.2008-2A>C	NP_000824.1:n.2008-2A>C
NM_001134407.2:c.2008-2A>C	NP_001127879.1:n.2008-2A>C
NM_001134408.2:c.2008-2A>C	NP_001127880.1:n.2008-2A>C
XM_011522456.1:c.1849-2A>C	XP_011520758.1:n.1849-2A>C
XM_011522457.1:c.1750-2A>C	XP_011520759.1:n.1750-2A>C
XM_011522458.1:c.1537-2A>C	XP_011520760.1:n.1537-2A>C
XM_011522459.1:c.1537-2A>C	XP_011520761.1:n.1537-2A>C
XM_011522460.1:c.1537-2A>C	XP_011520762.1:n.1537-2A>C
XM_011522461.1:c.2008-2A>C	XP_011520763.1:n.2008-2A>C
XM_011522458.3:c.1537-2A>C	XP_011520760.1:n.1537-2A>C
XM_011522461.3:c.2008-2A>C	XP_011520763.1:n.2008-2A>C
XM_017023172.1:c.2164-2A>C	XP_016878661.1:n.2164-2A>C
XM_017023173.1:c.2164-2A>C	XP_016878662.1:n.2164-2A>C
NM_001134407.3:c.2008-2A>C MANE Select	NP_001127879.1:n.2008-2A>C
NM_000833.5:c.2008-2A>C	NP_000824.1:n.2008-2A>C