Canonical Allele Identifier: CA2580092106
Gene: GRIN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 2035335
ClinVar RCV Id: RCV002877461

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9938355_9938356insGGCAGTTGA , CM000678.2:g.9938355_9938356insGGCAGTTGA GRCh38
NC_000016.9:g.10032212_10032213insGGCAGTTGA , CM000678.1:g.10032212_10032213insGGCAGTTGA GRCh37
NC_000016.8:g.9939713_9939714insGGCAGTTGA NCBI36
NG_011812.1:g.249402_249403insACTGCCTCA
NG_011812.2:g.249402_249403insACTGCCTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000330684.4:c.613_614insACTGCCTCA MANE Select ENSP00000332549.3:p.Ile204_Thr205insAsnCysLeu
ENST00000535259.6:c.142_143insACTGCCTCA ENSP00000441572.3:p.Ile47_Thr48insAsnCysLeu
ENST00000636273.2:n.206_207insACTGCCTCA
ENST00000637393.1:c.205_206insACTGCCTCA ENSP00000490232.1:p.Ile68_Thr69insAsnCysLeu
ENST00000674742.1:c.142_143insACTGCCTCA ENSP00000502200.1:p.Ile47_Thr48insAsnCysLeu
ENST00000675189.1:n.1097_1098insACTGCCTCA
ENST00000675398.1:c.613_614insACTGCCTCA ENSP00000502752.1:p.Ile204_Thr205insAsnCysLeu
ENST00000330684.3:c.613_614insACTGCCTCA ENSP00000332549.3:p.Ile204_Thr205insAsnCysLeu
ENST00000396573.6:c.613_614insACTGCCTCA ENSP00000379818.2:p.Ile204_Thr205insAsnCysLeu
ENST00000396575.6:c.202_203insACTGCCTCA ENSP00000379820.3:p.Ile67_Thr68insAsnCysLeu
ENST00000461292.3:n.252_253insACTGCCTCA
ENST00000535259.5:c.202_203insACTGCCTCA ENSP00000441572.2:p.Ile67_Thr68insAsnCysLeu
ENST00000562109.5:c.613_614insACTGCCTCA ENSP00000454998.1:p.Ile204_Thr205insAsnCysLeu
ENST00000566670.2:n.455_456insACTGCCTCA
ENST00000566683.1:n.241-47253_241-47252insACTGCCTCA
ENST00000568247.3:n.505_506insACTGCCTCA
NM_000833.4:c.613_614insACTGCCTCA NP_000824.1:p.Ile204_Thr205insAsnCysLeu
NM_001134407.2:c.613_614insACTGCCTCA NP_001127879.1:p.Ile204_Thr205insAsnCysLeu
NM_001134408.2:c.613_614insACTGCCTCA NP_001127880.1:p.Ile204_Thr205insAsnCysLeu
XM_011522456.1:c.454_455insACTGCCTCA XP_011520758.1:p.Ile151_Thr152insAsnCysLeu
XM_011522457.1:c.355_356insACTGCCTCA XP_011520759.1:p.Ile118_Thr119insAsnCysLeu
XM_011522458.1:c.142_143insACTGCCTCA XP_011520760.1:p.Ile47_Thr48insAsnCysLeu
XM_011522459.1:c.142_143insACTGCCTCA XP_011520761.1:p.Ile47_Thr48insAsnCysLeu
XM_011522460.1:c.142_143insACTGCCTCA XP_011520762.1:p.Ile47_Thr48insAsnCysLeu
XM_011522461.1:c.613_614insACTGCCTCA XP_011520763.1:p.Ile204_Thr205insAsnCysLeu
XM_011522458.3:c.142_143insACTGCCTCA XP_011520760.1:p.Ile47_Thr48insAsnCysLeu
XM_011522461.3:c.613_614insACTGCCTCA XP_011520763.1:p.Ile204_Thr205insAsnCysLeu
XM_017023172.1:c.769_770insACTGCCTCA XP_016878661.1:p.Ile256_Thr257insAsnCysLeu
XM_017023173.1:c.769_770insACTGCCTCA XP_016878662.1:p.Ile256_Thr257insAsnCysLeu
NM_001134407.3:c.613_614insACTGCCTCA MANE Select NP_001127879.1:p.Ile204_Thr205insAsnCysLeu
NM_000833.5:c.613_614insACTGCCTCA NP_000824.1:p.Ile204_Thr205insAsnCysLeu