Canonical Allele Identifier: CA278194573

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 840277
• ClinVar RCV Id: RCV001042230
• dbSNP Id: rs1016685456
• gnomAD v4: 16-9938112-T-G
• MyVariant Identifiers: chr16:g.10031969T>G (hg19) ; chr16:g.9938112T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938112T>G , CM000678.2:g.9938112T>G	GRCh38
NC_000016.9:g.10031969T>G , CM000678.1:g.10031969T>G	GRCh37
NC_000016.8:g.9939470T>G	NCBI36
NG_011812.1:g.249643A>C
NG_011812.2:g.249643A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.854A>C MANE Select	ENSP00000332549.3:p.Asp285Ala
ENST00000535259.6:c.383A>C	ENSP00000441572.3:p.Asp128Ala
ENST00000636273.2:n.447A>C
ENST00000637393.1:c.446A>C	ENSP00000490232.1:p.Asp149Ala
ENST00000674742.1:c.383A>C	ENSP00000502200.1:p.Asp128Ala
ENST00000675189.1:n.1338A>C
ENST00000675398.1:c.854A>C	ENSP00000502752.1:p.Asp285Ala
ENST00000330684.3:c.854A>C	ENSP00000332549.3:p.Asp285Ala
ENST00000396573.6:c.854A>C	ENSP00000379818.2:p.Asp285Ala
ENST00000396575.6:c.443A>C	ENSP00000379820.3:p.Asp148Ala
ENST00000461292.3:n.493A>C
ENST00000535259.5:c.443A>C	ENSP00000441572.2:p.Asp148Ala
ENST00000562109.5:c.854A>C	ENSP00000454998.1:p.Asp285Ala
ENST00000566683.1:n.241-47012A>C
ENST00000568247.3:n.746A>C
NM_000833.4:c.854A>C	NP_000824.1:p.Asp285Ala
NM_001134407.2:c.854A>C	NP_001127879.1:p.Asp285Ala
NM_001134408.2:c.854A>C	NP_001127880.1:p.Asp285Ala
XM_011522456.1:c.695A>C	XP_011520758.1:p.Asp232Ala
XM_011522457.1:c.596A>C	XP_011520759.1:p.Asp199Ala
XM_011522458.1:c.383A>C	XP_011520760.1:p.Asp128Ala
XM_011522459.1:c.383A>C	XP_011520761.1:p.Asp128Ala
XM_011522460.1:c.383A>C	XP_011520762.1:p.Asp128Ala
XM_011522461.1:c.854A>C	XP_011520763.1:p.Asp285Ala
XM_011522458.3:c.383A>C	XP_011520760.1:p.Asp128Ala
XM_011522461.3:c.854A>C	XP_011520763.1:p.Asp285Ala
XM_017023172.1:c.1010A>C	XP_016878661.1:p.Asp337Ala
XM_017023173.1:c.1010A>C	XP_016878662.1:p.Asp337Ala
NM_001134407.3:c.854A>C MANE Select	NP_001127879.1:p.Asp285Ala
NM_000833.5:c.854A>C	NP_000824.1:p.Asp285Ala