Canonical Allele Identifier: CA314951
Gene: GRIN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 205659
dbSNP Id: rs796052551

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9768997T>C , CM000678.2:g.9768997T>C GRCh38
NC_000016.9:g.9862854T>C , CM000678.1:g.9862854T>C GRCh37
NC_000016.8:g.9770355T>C NCBI36
NG_011812.1:g.418758A>G
NG_011812.2:g.418758A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000330684.4:c.2449A>G MANE Select ENSP00000332549.3:p.Met817Val
ENST00000535259.6:c.1978A>G ENSP00000441572.3:p.Met660Val
ENST00000636273.2:n.2042A>G
ENST00000674742.1:c.1978A>G ENSP00000502200.1:p.Met660Val
ENST00000675398.1:c.2357-4049A>G ENSP00000502752.1:n.2357-4049A>G
ENST00000330684.3:c.2449A>G ENSP00000332549.3:p.Met817Val
ENST00000396573.6:c.2449A>G ENSP00000379818.2:p.Met817Val
ENST00000396575.6:c.2038A>G ENSP00000379820.3:p.Met680Val
ENST00000461292.3:n.2088A>G
ENST00000463531.1:n.232A>G
ENST00000535259.5:c.2038A>G ENSP00000441572.2:p.Met680Val
ENST00000562109.5:c.2449A>G ENSP00000454998.1:p.Met817Val
NM_000833.4:c.2449A>G NP_000824.1:p.Met817Val
NM_001134407.2:c.2449A>G NP_001127879.1:p.Met817Val
NM_001134408.2:c.2449A>G NP_001127880.1:p.Met817Val
XM_011522456.1:c.2290A>G XP_011520758.1:p.Met764Val
XM_011522457.1:c.2191A>G XP_011520759.1:p.Met731Val
XM_011522458.1:c.1978A>G XP_011520760.1:p.Met660Val
XM_011522459.1:c.1978A>G XP_011520761.1:p.Met660Val
XM_011522460.1:c.1978A>G XP_011520762.1:p.Met660Val
XM_011522461.1:c.2449A>G XP_011520763.1:p.Met817Val
XM_011522458.3:c.1978A>G XP_011520760.1:p.Met660Val
XM_011522461.3:c.2449A>G XP_011520763.1:p.Met817Val
XM_017023172.1:c.2605A>G XP_016878661.1:p.Met869Val
XM_017023173.1:c.2605A>G XP_016878662.1:p.Met869Val
NM_001134407.3:c.2449A>G MANE Select NP_001127879.1:p.Met817Val
NM_000833.5:c.2449A>G NP_000824.1:p.Met817Val