Canonical Allele Identifier: CA394798251

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2126411
• ClinVar RCV Id: RCV003044111
• dbSNP Id: rs901717931
• MyVariant Identifiers: chr16:g.10031919C>G (hg19) ; chr16:g.9938062C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938062C>G , CM000678.2:g.9938062C>G	GRCh38
NC_000016.9:g.10031919C>G , CM000678.1:g.10031919C>G	GRCh37
NC_000016.8:g.9939420C>G	NCBI36
NG_011812.1:g.249693G>C
NG_011812.2:g.249693G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.904G>C MANE Select	ENSP00000332549.3:p.Ala302Pro
ENST00000535259.6:c.433G>C	ENSP00000441572.3:p.Ala145Pro
ENST00000636273.2:n.497G>C
ENST00000637393.1:c.496G>C	ENSP00000490232.1:p.Ala166Pro
ENST00000674742.1:c.433G>C	ENSP00000502200.1:p.Ala145Pro
ENST00000675189.1:n.1388G>C
ENST00000675398.1:c.904G>C	ENSP00000502752.1:p.Ala302Pro
ENST00000330684.3:c.904G>C	ENSP00000332549.3:p.Ala302Pro
ENST00000396573.6:c.904G>C	ENSP00000379818.2:p.Ala302Pro
ENST00000396575.6:c.493G>C	ENSP00000379820.3:p.Ala165Pro
ENST00000461292.3:n.543G>C
ENST00000535259.5:c.493G>C	ENSP00000441572.2:p.Ala165Pro
ENST00000562109.5:c.904G>C	ENSP00000454998.1:p.Ala302Pro
ENST00000566683.1:n.241-46962G>C
ENST00000568247.3:n.796G>C
NM_000833.4:c.904G>C	NP_000824.1:p.Ala302Pro
NM_001134407.2:c.904G>C	NP_001127879.1:p.Ala302Pro
NM_001134408.2:c.904G>C	NP_001127880.1:p.Ala302Pro
XM_011522456.1:c.745G>C	XP_011520758.1:p.Ala249Pro
XM_011522457.1:c.646G>C	XP_011520759.1:p.Ala216Pro
XM_011522458.1:c.433G>C	XP_011520760.1:p.Ala145Pro
XM_011522459.1:c.433G>C	XP_011520761.1:p.Ala145Pro
XM_011522460.1:c.433G>C	XP_011520762.1:p.Ala145Pro
XM_011522461.1:c.904G>C	XP_011520763.1:p.Ala302Pro
XM_011522458.3:c.433G>C	XP_011520760.1:p.Ala145Pro
XM_011522461.3:c.904G>C	XP_011520763.1:p.Ala302Pro
XM_017023172.1:c.1060G>C	XP_016878661.1:p.Ala354Pro
XM_017023173.1:c.1060G>C	XP_016878662.1:p.Ala354Pro
NM_001134407.3:c.904G>C MANE Select	NP_001127879.1:p.Ala302Pro
NM_000833.5:c.904G>C	NP_000824.1:p.Ala302Pro