Canonical Allele Identifier: CA7896230

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 955140
• ClinVar RCV Id: RCV001227727
• dbSNP Id: rs774419037
• ExAC: 16:9857449 G / A
• gnomAD v2: 16-9857449-G-A
• gnomAD v3: 16-9763592-G-A
• gnomAD v4: 16-9763592-G-A
• COSMIC: COSM109239
• MyVariant Identifiers: chr16:g.9857449G>A (hg19) ; chr16:g.9763592G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763592G>A , CM000678.2:g.9763592G>A	GRCh38
NC_000016.9:g.9857449G>A , CM000678.1:g.9857449G>A	GRCh37
NC_000016.8:g.9764950G>A	NCBI36
NG_011812.1:g.424163C>T
NG_011812.2:g.424163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3952C>T MANE Select	ENSP00000332549.3:p.Arg1318Trp
ENST00000535259.6:c.3302-164C>T	ENSP00000441572.3:n.3302-164C>T
ENST00000636273.2:n.3366-164C>T
ENST00000674742.1:c.3481C>T	ENSP00000502200.1:p.Arg1161Trp
ENST00000675398.1:c.*1322C>T	ENSP00000502752.1:n.*1322C>T
ENST00000330684.3:c.3952C>T	ENSP00000332549.3:p.Arg1318Trp
ENST00000396573.6:c.3952C>T	ENSP00000379818.2:p.Arg1318Trp
ENST00000396575.6:c.3541C>T	ENSP00000379820.3:p.Arg1181Trp
ENST00000461292.3:n.3412-164C>T
ENST00000535259.5:c.3362-164C>T	ENSP00000441572.2:n.3362-164C>T
ENST00000562109.5:c.3773-164C>T	ENSP00000454998.1:n.3773-164C>T
NM_000833.4:c.3952C>T	NP_000824.1:p.Arg1318Trp
NM_001134407.2:c.3952C>T	NP_001127879.1:p.Arg1318Trp
NM_001134408.2:c.3773-164C>T	NP_001127880.1:n.3773-164C>T
XM_011522456.1:c.3793C>T	XP_011520758.1:p.Arg1265Trp
XM_011522457.1:c.3694C>T	XP_011520759.1:p.Arg1232Trp
XM_011522458.1:c.3481C>T	XP_011520760.1:p.Arg1161Trp
XM_011522459.1:c.3481C>T	XP_011520761.1:p.Arg1161Trp
XM_011522460.1:c.3481C>T	XP_011520762.1:p.Arg1161Trp
XM_011522461.1:c.3773-164C>T	XP_011520763.1:n.3773-164C>T
XM_011522458.3:c.3481C>T	XP_011520760.1:p.Arg1161Trp
XM_011522461.3:c.3773-164C>T	XP_011520763.1:n.3773-164C>T
XM_017023172.1:c.4108C>T	XP_016878661.1:p.Arg1370Trp
XM_017023173.1:c.3929-164C>T	XP_016878662.1:n.3929-164C>T
NM_001134407.3:c.3952C>T MANE Select	NP_001127879.1:p.Arg1318Trp
NM_000833.5:c.3952C>T	NP_000824.1:p.Arg1318Trp