Canonical Allele Identifier: CA394798668
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs2141631268
gnomAD v4: 16-9938257-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9938257C>T , CM000678.2:g.9938257C>T GRCh38
NC_000016.9:g.10032114C>T , CM000678.1:g.10032114C>T GRCh37
NC_000016.8:g.9939615C>T NCBI36
NG_011812.1:g.249498G>A
NG_011812.2:g.249498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.709G>A MANE Select ENSP00000332549.3:p.Val237Ile
ENST00000535259.6:c.238G>A ENSP00000441572.3:p.Val80Ile
ENST00000636273.2:n.302G>A
ENST00000637393.1:c.301G>A ENSP00000490232.1:p.Val101Ile
ENST00000674742.1:c.238G>A ENSP00000502200.1:p.Val80Ile
ENST00000675189.1:n.1193G>A
ENST00000675398.1:c.709G>A ENSP00000502752.1:p.Val237Ile
ENST00000330684.3:c.709G>A ENSP00000332549.3:p.Val237Ile
ENST00000396573.6:c.709G>A ENSP00000379818.2:p.Val237Ile
ENST00000396575.6:c.298G>A ENSP00000379820.3:p.Val100Ile
ENST00000461292.3:n.348G>A
ENST00000535259.5:c.298G>A ENSP00000441572.2:p.Val100Ile
ENST00000562109.5:c.709G>A ENSP00000454998.1:p.Val237Ile
ENST00000566670.2:n.551G>A
ENST00000566683.1:n.241-47157G>A
ENST00000568247.3:n.601G>A
NM_000833.4:c.709G>A NP_000824.1:p.Val237Ile
NM_001134407.2:c.709G>A NP_001127879.1:p.Val237Ile
NM_001134408.2:c.709G>A NP_001127880.1:p.Val237Ile
XM_011522456.1:c.550G>A XP_011520758.1:p.Val184Ile
XM_011522457.1:c.451G>A XP_011520759.1:p.Val151Ile
XM_011522458.1:c.238G>A XP_011520760.1:p.Val80Ile
XM_011522459.1:c.238G>A XP_011520761.1:p.Val80Ile
XM_011522460.1:c.238G>A XP_011520762.1:p.Val80Ile
XM_011522461.1:c.709G>A XP_011520763.1:p.Val237Ile
XM_011522458.3:c.238G>A XP_011520760.1:p.Val80Ile
XM_011522461.3:c.709G>A XP_011520763.1:p.Val237Ile
XM_017023172.1:c.865G>A XP_016878661.1:p.Val289Ile
XM_017023173.1:c.865G>A XP_016878662.1:p.Val289Ile
NM_001134407.3:c.709G>A MANE Select NP_001127879.1:p.Val237Ile
NM_000833.5:c.709G>A NP_000824.1:p.Val237Ile