Canonical Allele Identifier: CA130441
Gene: GRIN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 39662
ClinVar RCV Id: RCV000032866
dbSNP Id: rs397514557

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9829485G>C , CM000678.2:g.9829485G>C GRCh38
NC_000016.9:g.9923342G>C , CM000678.1:g.9923342G>C GRCh37
NC_000016.8:g.9830843G>C NCBI36
NG_011812.1:g.358270C>G
NG_011812.2:g.358270C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.1945C>G MANE Select ENSP00000332549.3:p.Leu649Val
ENST00000535259.6:c.1474C>G ENSP00000441572.3:p.Leu492Val
ENST00000636273.2:n.1538C>G
ENST00000674742.1:c.1474C>G ENSP00000502200.1:p.Leu492Val
ENST00000675398.1:c.1945C>G ENSP00000502752.1:p.Leu649Val
ENST00000330684.3:c.1945C>G ENSP00000332549.3:p.Leu649Val
ENST00000396573.6:c.1945C>G ENSP00000379818.2:p.Leu649Val
ENST00000396575.6:c.1534C>G ENSP00000379820.3:p.Leu512Val
ENST00000461292.3:n.1584C>G
ENST00000535259.5:c.1534C>G ENSP00000441572.2:p.Leu512Val
ENST00000562109.5:c.1945C>G ENSP00000454998.1:p.Leu649Val
NM_000833.4:c.1945C>G NP_000824.1:p.Leu649Val
NM_001134407.2:c.1945C>G NP_001127879.1:p.Leu649Val
NM_001134408.2:c.1945C>G NP_001127880.1:p.Leu649Val
XM_011522456.1:c.1786C>G XP_011520758.1:p.Leu596Val
XM_011522457.1:c.1687C>G XP_011520759.1:p.Leu563Val
XM_011522458.1:c.1474C>G XP_011520760.1:p.Leu492Val
XM_011522459.1:c.1474C>G XP_011520761.1:p.Leu492Val
XM_011522460.1:c.1474C>G XP_011520762.1:p.Leu492Val
XM_011522461.1:c.1945C>G XP_011520763.1:p.Leu649Val
XM_011522458.3:c.1474C>G XP_011520760.1:p.Leu492Val
XM_011522461.3:c.1945C>G XP_011520763.1:p.Leu649Val
XM_017023172.1:c.2101C>G XP_016878661.1:p.Leu701Val
XM_017023173.1:c.2101C>G XP_016878662.1:p.Leu701Val
NM_001134407.3:c.1945C>G MANE Select NP_001127879.1:p.Leu649Val
NM_000833.5:c.1945C>G NP_000824.1:p.Leu649Val