Canonical Allele Identifier: CA16603246
Gene: GRIN2A HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9829535G>A , CM000678.2:g.9829535G>A GRCh38
NC_000016.9:g.9923392G>A , CM000678.1:g.9923392G>A GRCh37
NC_000016.8:g.9830893G>A NCBI36
NG_011812.1:g.358220C>T
NG_011812.2:g.358220C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.1895C>T MANE Select ENSP00000332549.3:p.Ser632Phe
ENST00000535259.6:c.1424C>T ENSP00000441572.3:p.Ser475Phe
ENST00000636273.2:n.1488C>T
ENST00000674742.1:c.1424C>T ENSP00000502200.1:p.Ser475Phe
ENST00000675398.1:c.1895C>T ENSP00000502752.1:p.Ser632Phe
ENST00000330684.3:c.1895C>T ENSP00000332549.3:p.Ser632Phe
ENST00000396573.6:c.1895C>T ENSP00000379818.2:p.Ser632Phe
ENST00000396575.6:c.1484C>T ENSP00000379820.3:p.Ser495Phe
ENST00000461292.3:n.1534C>T
ENST00000535259.5:c.1484C>T ENSP00000441572.2:p.Ser495Phe
ENST00000562109.5:c.1895C>T ENSP00000454998.1:p.Ser632Phe
NM_000833.4:c.1895C>T NP_000824.1:p.Ser632Phe
NM_001134407.2:c.1895C>T NP_001127879.1:p.Ser632Phe
NM_001134408.2:c.1895C>T NP_001127880.1:p.Ser632Phe
XM_011522456.1:c.1736C>T XP_011520758.1:p.Ser579Phe
XM_011522457.1:c.1637C>T XP_011520759.1:p.Ser546Phe
XM_011522458.1:c.1424C>T XP_011520760.1:p.Ser475Phe
XM_011522459.1:c.1424C>T XP_011520761.1:p.Ser475Phe
XM_011522460.1:c.1424C>T XP_011520762.1:p.Ser475Phe
XM_011522461.1:c.1895C>T XP_011520763.1:p.Ser632Phe
XM_011522458.3:c.1424C>T XP_011520760.1:p.Ser475Phe
XM_011522461.3:c.1895C>T XP_011520763.1:p.Ser632Phe
XM_017023172.1:c.2051C>T XP_016878661.1:p.Ser684Phe
XM_017023173.1:c.2051C>T XP_016878662.1:p.Ser684Phe
NM_001134407.3:c.1895C>T MANE Select NP_001127879.1:p.Ser632Phe
NM_000833.5:c.1895C>T NP_000824.1:p.Ser632Phe