Canonical Allele Identifier: CA10604082
Gene: GRIN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 282150
dbSNP Id: rs886042323
gnomAD v2: 16-9858507-G-A
gnomAD v4: 16-9764650-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9764650G>A , CM000678.2:g.9764650G>A GRCh38
NC_000016.9:g.9858507G>A , CM000678.1:g.9858507G>A GRCh37
NC_000016.8:g.9766008G>A NCBI36
NG_011812.1:g.423105C>T
NG_011812.2:g.423105C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.2894C>T MANE Select ENSP00000332549.3:p.Thr965Ile
ENST00000535259.6:c.2423C>T ENSP00000441572.3:p.Thr808Ile
ENST00000636273.2:n.2487C>T
ENST00000674742.1:c.2423C>T ENSP00000502200.1:p.Thr808Ile
ENST00000675398.1:c.*264C>T ENSP00000502752.1:n.*264C>T
ENST00000330684.3:c.2894C>T ENSP00000332549.3:p.Thr965Ile
ENST00000396573.6:c.2894C>T ENSP00000379818.2:p.Thr965Ile
ENST00000396575.6:c.2483C>T ENSP00000379820.3:p.Thr828Ile
ENST00000461292.3:n.2533C>T
ENST00000535259.5:c.2483C>T ENSP00000441572.2:p.Thr828Ile
ENST00000562109.5:c.2894C>T ENSP00000454998.1:p.Thr965Ile
NM_000833.4:c.2894C>T NP_000824.1:p.Thr965Ile
NM_001134407.2:c.2894C>T NP_001127879.1:p.Thr965Ile
NM_001134408.2:c.2894C>T NP_001127880.1:p.Thr965Ile
XM_011522456.1:c.2735C>T XP_011520758.1:p.Thr912Ile
XM_011522457.1:c.2636C>T XP_011520759.1:p.Thr879Ile
XM_011522458.1:c.2423C>T XP_011520760.1:p.Thr808Ile
XM_011522459.1:c.2423C>T XP_011520761.1:p.Thr808Ile
XM_011522460.1:c.2423C>T XP_011520762.1:p.Thr808Ile
XM_011522461.1:c.2894C>T XP_011520763.1:p.Thr965Ile
XM_011522458.3:c.2423C>T XP_011520760.1:p.Thr808Ile
XM_011522461.3:c.2894C>T XP_011520763.1:p.Thr965Ile
XM_017023172.1:c.3050C>T XP_016878661.1:p.Thr1017Ile
XM_017023173.1:c.3050C>T XP_016878662.1:p.Thr1017Ile
NM_001134407.3:c.2894C>T MANE Select NP_001127879.1:p.Thr965Ile
NM_000833.5:c.2894C>T NP_000824.1:p.Thr965Ile