Canonical Allele Identifier: CA394799151
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs2044769611
gnomAD v3: 16-9938440-T-C
gnomAD v4: 16-9938440-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9938440T>C , CM000678.2:g.9938440T>C GRCh38
NC_000016.9:g.10032297T>C , CM000678.1:g.10032297T>C GRCh37
NC_000016.8:g.9939798T>C NCBI36
NG_011812.1:g.249315A>G
NG_011812.2:g.249315A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.526A>G MANE Select ENSP00000332549.3:p.Ile176Val
ENST00000535259.6:c.55A>G ENSP00000441572.3:p.Ile19Val
ENST00000636273.2:n.119A>G
ENST00000637393.1:c.118A>G ENSP00000490232.1:p.Ile40Val
ENST00000674742.1:c.55A>G ENSP00000502200.1:p.Ile19Val
ENST00000675189.1:n.1010A>G
ENST00000675398.1:c.526A>G ENSP00000502752.1:p.Ile176Val
ENST00000330684.3:c.526A>G ENSP00000332549.3:p.Ile176Val
ENST00000396573.6:c.526A>G ENSP00000379818.2:p.Ile176Val
ENST00000396575.6:c.115A>G ENSP00000379820.3:p.Ile39Val
ENST00000461292.3:n.165A>G
ENST00000535259.5:c.115A>G ENSP00000441572.2:p.Ile39Val
ENST00000562109.5:c.526A>G ENSP00000454998.1:p.Ile176Val
ENST00000566670.2:n.368A>G
ENST00000566683.1:n.241-47340A>G
ENST00000568247.3:n.418A>G
NM_000833.4:c.526A>G NP_000824.1:p.Ile176Val
NM_001134407.2:c.526A>G NP_001127879.1:p.Ile176Val
NM_001134408.2:c.526A>G NP_001127880.1:p.Ile176Val
XM_011522456.1:c.367A>G XP_011520758.1:p.Ile123Val
XM_011522457.1:c.268A>G XP_011520759.1:p.Ile90Val
XM_011522458.1:c.55A>G XP_011520760.1:p.Ile19Val
XM_011522459.1:c.55A>G XP_011520761.1:p.Ile19Val
XM_011522460.1:c.55A>G XP_011520762.1:p.Ile19Val
XM_011522461.1:c.526A>G XP_011520763.1:p.Ile176Val
XM_011522458.3:c.55A>G XP_011520760.1:p.Ile19Val
XM_011522461.3:c.526A>G XP_011520763.1:p.Ile176Val
XM_017023172.1:c.682A>G XP_016878661.1:p.Ile228Val
XM_017023173.1:c.682A>G XP_016878662.1:p.Ile228Val
NM_001134407.3:c.526A>G MANE Select NP_001127879.1:p.Ile176Val
NM_000833.5:c.526A>G NP_000824.1:p.Ile176Val