Canonical Allele Identifier: CA7896316

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1394669
• ClinVar RCV Id: RCV001884867
• dbSNP Id: rs779746293
• ExAC: 16:9857968 C / T
• gnomAD v2: 16-9857968-C-T
• gnomAD v3: 16-9764111-C-T
• gnomAD v4: 16-9764111-C-T
• COSMIC: COSM1302381
• MyVariant Identifiers: chr16:g.9857968C>T (hg19) ; chr16:g.9764111C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764111C>T , CM000678.2:g.9764111C>T	GRCh38
NC_000016.9:g.9857968C>T , CM000678.1:g.9857968C>T	GRCh37
NC_000016.8:g.9765469C>T	NCBI36
NG_011812.1:g.423644G>A
NG_011812.2:g.423644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3433G>A MANE Select	ENSP00000332549.3:p.Val1145Met
ENST00000535259.6:c.2962G>A	ENSP00000441572.3:p.Val988Met
ENST00000636273.2:n.3026G>A
ENST00000674742.1:c.2962G>A	ENSP00000502200.1:p.Val988Met
ENST00000675398.1:c.*803G>A	ENSP00000502752.1:n.*803G>A
ENST00000330684.3:c.3433G>A	ENSP00000332549.3:p.Val1145Met
ENST00000396573.6:c.3433G>A	ENSP00000379818.2:p.Val1145Met
ENST00000396575.6:c.3022G>A	ENSP00000379820.3:p.Val1008Met
ENST00000461292.3:n.3072G>A
ENST00000535259.5:c.3022G>A	ENSP00000441572.2:p.Val1008Met
ENST00000562109.5:c.3433G>A	ENSP00000454998.1:p.Val1145Met
NM_000833.4:c.3433G>A	NP_000824.1:p.Val1145Met
NM_001134407.2:c.3433G>A	NP_001127879.1:p.Val1145Met
NM_001134408.2:c.3433G>A	NP_001127880.1:p.Val1145Met
XM_011522456.1:c.3274G>A	XP_011520758.1:p.Val1092Met
XM_011522457.1:c.3175G>A	XP_011520759.1:p.Val1059Met
XM_011522458.1:c.2962G>A	XP_011520760.1:p.Val988Met
XM_011522459.1:c.2962G>A	XP_011520761.1:p.Val988Met
XM_011522460.1:c.2962G>A	XP_011520762.1:p.Val988Met
XM_011522461.1:c.3433G>A	XP_011520763.1:p.Val1145Met
XM_011522458.3:c.2962G>A	XP_011520760.1:p.Val988Met
XM_011522461.3:c.3433G>A	XP_011520763.1:p.Val1145Met
XM_017023172.1:c.3589G>A	XP_016878661.1:p.Val1197Met
XM_017023173.1:c.3589G>A	XP_016878662.1:p.Val1197Met
NM_001134407.3:c.3433G>A MANE Select	NP_001127879.1:p.Val1145Met
NM_000833.5:c.3433G>A	NP_000824.1:p.Val1145Met