Canonical Allele Identifier: CA394709345
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs1215825826
gnomAD v2: 16-9858609-A-C
gnomAD v4: 16-9764752-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9764752A>C , CM000678.2:g.9764752A>C GRCh38
NC_000016.9:g.9858609A>C , CM000678.1:g.9858609A>C GRCh37
NC_000016.8:g.9766110A>C NCBI36
NG_011812.1:g.423003T>G
NG_011812.2:g.423003T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.2792T>G MANE Select ENSP00000332549.3:p.Ile931Ser
ENST00000535259.6:c.2321T>G ENSP00000441572.3:p.Ile774Ser
ENST00000636273.2:n.2385T>G
ENST00000674742.1:c.2321T>G ENSP00000502200.1:p.Ile774Ser
ENST00000675398.1:c.*162T>G ENSP00000502752.1:n.*162T>G
ENST00000330684.3:c.2792T>G ENSP00000332549.3:p.Ile931Ser
ENST00000396573.6:c.2792T>G ENSP00000379818.2:p.Ile931Ser
ENST00000396575.6:c.2381T>G ENSP00000379820.3:p.Ile794Ser
ENST00000461292.3:n.2431T>G
ENST00000535259.5:c.2381T>G ENSP00000441572.2:p.Ile794Ser
ENST00000562109.5:c.2792T>G ENSP00000454998.1:p.Ile931Ser
NM_000833.4:c.2792T>G NP_000824.1:p.Ile931Ser
NM_001134407.2:c.2792T>G NP_001127879.1:p.Ile931Ser
NM_001134408.2:c.2792T>G NP_001127880.1:p.Ile931Ser
XM_011522456.1:c.2633T>G XP_011520758.1:p.Ile878Ser
XM_011522457.1:c.2534T>G XP_011520759.1:p.Ile845Ser
XM_011522458.1:c.2321T>G XP_011520760.1:p.Ile774Ser
XM_011522459.1:c.2321T>G XP_011520761.1:p.Ile774Ser
XM_011522460.1:c.2321T>G XP_011520762.1:p.Ile774Ser
XM_011522461.1:c.2792T>G XP_011520763.1:p.Ile931Ser
XM_011522458.3:c.2321T>G XP_011520760.1:p.Ile774Ser
XM_011522461.3:c.2792T>G XP_011520763.1:p.Ile931Ser
XM_017023172.1:c.2948T>G XP_016878661.1:p.Ile983Ser
XM_017023173.1:c.2948T>G XP_016878662.1:p.Ile983Ser
NM_001134407.3:c.2792T>G MANE Select NP_001127879.1:p.Ile931Ser
NM_000833.5:c.2792T>G NP_000824.1:p.Ile931Ser