Canonical Allele Identifier: CA394798115

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1922576
• ClinVar RCV Id: RCV002617597
• MyVariant Identifiers: chr16:g.10031856G>T (hg19) ; chr16:g.9937999G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9937999G>T , CM000678.2:g.9937999G>T	GRCh38
NC_000016.9:g.10031856G>T , CM000678.1:g.10031856G>T	GRCh37
NC_000016.8:g.9939357G>T	NCBI36
NG_011812.1:g.249756C>A
NG_011812.2:g.249756C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.967C>A MANE Select	ENSP00000332549.3:p.Gln323Lys
ENST00000535259.6:c.496C>A	ENSP00000441572.3:p.Gln166Lys
ENST00000636273.2:n.560C>A
ENST00000637393.1:c.559C>A	ENSP00000490232.1:p.Gln187Lys
ENST00000674742.1:c.496C>A	ENSP00000502200.1:p.Gln166Lys
ENST00000675189.1:n.1451C>A
ENST00000675398.1:c.967C>A	ENSP00000502752.1:p.Gln323Lys
ENST00000330684.3:c.967C>A	ENSP00000332549.3:p.Gln323Lys
ENST00000396573.6:c.967C>A	ENSP00000379818.2:p.Gln323Lys
ENST00000396575.6:c.556C>A	ENSP00000379820.3:p.Gln186Lys
ENST00000461292.3:n.606C>A
ENST00000535259.5:c.556C>A	ENSP00000441572.2:p.Gln186Lys
ENST00000562109.5:c.967C>A	ENSP00000454998.1:p.Gln323Lys
ENST00000566683.1:n.241-46899C>A
ENST00000568247.3:n.859C>A
NM_000833.4:c.967C>A	NP_000824.1:p.Gln323Lys
NM_001134407.2:c.967C>A	NP_001127879.1:p.Gln323Lys
NM_001134408.2:c.967C>A	NP_001127880.1:p.Gln323Lys
XM_011522456.1:c.808C>A	XP_011520758.1:p.Gln270Lys
XM_011522457.1:c.709C>A	XP_011520759.1:p.Gln237Lys
XM_011522458.1:c.496C>A	XP_011520760.1:p.Gln166Lys
XM_011522459.1:c.496C>A	XP_011520761.1:p.Gln166Lys
XM_011522460.1:c.496C>A	XP_011520762.1:p.Gln166Lys
XM_011522461.1:c.967C>A	XP_011520763.1:p.Gln323Lys
XM_011522458.3:c.496C>A	XP_011520760.1:p.Gln166Lys
XM_011522461.3:c.967C>A	XP_011520763.1:p.Gln323Lys
XM_017023172.1:c.1123C>A	XP_016878661.1:p.Gln375Lys
XM_017023173.1:c.1123C>A	XP_016878662.1:p.Gln375Lys
NM_001134407.3:c.967C>A MANE Select	NP_001127879.1:p.Gln323Lys
NM_000833.5:c.967C>A	NP_000824.1:p.Gln323Lys