Canonical Allele Identifier: CA314923

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 205643
• ClinVar RCV Id: RCV000187628 ; RCV000347959 ; RCV000858631
• dbSNP Id: rs139795367
• ExAC: 16:9858549 C / A
• gnomAD v2: 16-9858549-C-A
• gnomAD v3: 16-9764692-C-A
• gnomAD v4: 16-9764692-C-A
• MyVariant Identifiers: chr16:g.9858549C>A (hg19) ; chr16:g.9764692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764692C>A , CM000678.2:g.9764692C>A	GRCh38
NC_000016.9:g.9858549C>A , CM000678.1:g.9858549C>A	GRCh37
NC_000016.8:g.9766050C>A	NCBI36
NG_011812.1:g.423063G>T
NG_011812.2:g.423063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2852G>T MANE Select	ENSP00000332549.3:p.Gly951Val
ENST00000535259.6:c.2381G>T	ENSP00000441572.3:p.Gly794Val
ENST00000636273.2:n.2445G>T
ENST00000674742.1:c.2381G>T	ENSP00000502200.1:p.Gly794Val
ENST00000675398.1:c.*222G>T	ENSP00000502752.1:n.*222G>T
ENST00000330684.3:c.2852G>T	ENSP00000332549.3:p.Gly951Val
ENST00000396573.6:c.2852G>T	ENSP00000379818.2:p.Gly951Val
ENST00000396575.6:c.2441G>T	ENSP00000379820.3:p.Gly814Val
ENST00000461292.3:n.2491G>T
ENST00000535259.5:c.2441G>T	ENSP00000441572.2:p.Gly814Val
ENST00000562109.5:c.2852G>T	ENSP00000454998.1:p.Gly951Val
NM_000833.4:c.2852G>T	NP_000824.1:p.Gly951Val
NM_001134407.2:c.2852G>T	NP_001127879.1:p.Gly951Val
NM_001134408.2:c.2852G>T	NP_001127880.1:p.Gly951Val
XM_011522456.1:c.2693G>T	XP_011520758.1:p.Gly898Val
XM_011522457.1:c.2594G>T	XP_011520759.1:p.Gly865Val
XM_011522458.1:c.2381G>T	XP_011520760.1:p.Gly794Val
XM_011522459.1:c.2381G>T	XP_011520761.1:p.Gly794Val
XM_011522460.1:c.2381G>T	XP_011520762.1:p.Gly794Val
XM_011522461.1:c.2852G>T	XP_011520763.1:p.Gly951Val
XM_011522458.3:c.2381G>T	XP_011520760.1:p.Gly794Val
XM_011522461.3:c.2852G>T	XP_011520763.1:p.Gly951Val
XM_017023172.1:c.3008G>T	XP_016878661.1:p.Gly1003Val
XM_017023173.1:c.3008G>T	XP_016878662.1:p.Gly1003Val
NM_001134407.3:c.2852G>T MANE Select	NP_001127879.1:p.Gly951Val
NM_000833.5:c.2852G>T	NP_000824.1:p.Gly951Val