Canonical Allele Identifier: CA394708902

Gene: GRIN2A

Linked Data

• dbSNP Id: rs1258974659
• gnomAD v2: 16-9858409-C-T
• gnomAD v4: 16-9764552-C-T
• MyVariant Identifiers: chr16:g.9858409C>T (hg19) ; chr16:g.9764552C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764552C>T , CM000678.2:g.9764552C>T	GRCh38
NC_000016.9:g.9858409C>T , CM000678.1:g.9858409C>T	GRCh37
NC_000016.8:g.9765910C>T	NCBI36
NG_011812.1:g.423203G>A
NG_011812.2:g.423203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2992G>A MANE Select	ENSP00000332549.3:p.Val998Met
ENST00000535259.6:c.2521G>A	ENSP00000441572.3:p.Val841Met
ENST00000636273.2:n.2585G>A
ENST00000674742.1:c.2521G>A	ENSP00000502200.1:p.Val841Met
ENST00000675398.1:c.*362G>A	ENSP00000502752.1:n.*362G>A
ENST00000330684.3:c.2992G>A	ENSP00000332549.3:p.Val998Met
ENST00000396573.6:c.2992G>A	ENSP00000379818.2:p.Val998Met
ENST00000396575.6:c.2581G>A	ENSP00000379820.3:p.Val861Met
ENST00000461292.3:n.2631G>A
ENST00000535259.5:c.2581G>A	ENSP00000441572.2:p.Val861Met
ENST00000562109.5:c.2992G>A	ENSP00000454998.1:p.Val998Met
NM_000833.4:c.2992G>A	NP_000824.1:p.Val998Met
NM_001134407.2:c.2992G>A	NP_001127879.1:p.Val998Met
NM_001134408.2:c.2992G>A	NP_001127880.1:p.Val998Met
XM_011522456.1:c.2833G>A	XP_011520758.1:p.Val945Met
XM_011522457.1:c.2734G>A	XP_011520759.1:p.Val912Met
XM_011522458.1:c.2521G>A	XP_011520760.1:p.Val841Met
XM_011522459.1:c.2521G>A	XP_011520761.1:p.Val841Met
XM_011522460.1:c.2521G>A	XP_011520762.1:p.Val841Met
XM_011522461.1:c.2992G>A	XP_011520763.1:p.Val998Met
XM_011522458.3:c.2521G>A	XP_011520760.1:p.Val841Met
XM_011522461.3:c.2992G>A	XP_011520763.1:p.Val998Met
XM_017023172.1:c.3148G>A	XP_016878661.1:p.Val1050Met
XM_017023173.1:c.3148G>A	XP_016878662.1:p.Val1050Met
NM_001134407.3:c.2992G>A MANE Select	NP_001127879.1:p.Val998Met
NM_000833.5:c.2992G>A	NP_000824.1:p.Val998Met