Canonical Allele Identifier: CA974546391
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs2042446611
gnomAD v3: 16-9829411-A-G
gnomAD v4: 16-9829411-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9829411A>G , CM000678.2:g.9829411A>G GRCh38
NC_000016.9:g.9923268A>G , CM000678.1:g.9923268A>G GRCh37
NC_000016.8:g.9830769A>G NCBI36
NG_011812.1:g.358344T>C
NG_011812.2:g.358344T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000330684.4:c.2007+12T>C MANE Select ENSP00000332549.3:n.2007+12T>C
ENST00000535259.6:c.1536+12T>C ENSP00000441572.3:n.1536+12T>C
ENST00000636273.2:n.1600+12T>C
ENST00000674742.1:c.1536+12T>C ENSP00000502200.1:n.1536+12T>C
ENST00000675398.1:c.2007+12T>C ENSP00000502752.1:n.2007+12T>C
ENST00000330684.3:c.2007+12T>C ENSP00000332549.3:n.2007+12T>C
ENST00000396573.6:c.2007+12T>C ENSP00000379818.2:n.2007+12T>C
ENST00000396575.6:c.1596+12T>C ENSP00000379820.3:n.1596+12T>C
ENST00000461292.3:n.1646+12T>C
ENST00000535259.5:c.1596+12T>C ENSP00000441572.2:n.1596+12T>C
ENST00000562109.5:c.2007+12T>C ENSP00000454998.1:n.2007+12T>C
NM_000833.4:c.2007+12T>C NP_000824.1:n.2007+12T>C
NM_001134407.2:c.2007+12T>C NP_001127879.1:n.2007+12T>C
NM_001134408.2:c.2007+12T>C NP_001127880.1:n.2007+12T>C
XM_011522456.1:c.1848+12T>C XP_011520758.1:n.1848+12T>C
XM_011522457.1:c.1749+12T>C XP_011520759.1:n.1749+12T>C
XM_011522458.1:c.1536+12T>C XP_011520760.1:n.1536+12T>C
XM_011522459.1:c.1536+12T>C XP_011520761.1:n.1536+12T>C
XM_011522460.1:c.1536+12T>C XP_011520762.1:n.1536+12T>C
XM_011522461.1:c.2007+12T>C XP_011520763.1:n.2007+12T>C
XM_011522458.3:c.1536+12T>C XP_011520760.1:n.1536+12T>C
XM_011522461.3:c.2007+12T>C XP_011520763.1:n.2007+12T>C
XM_017023172.1:c.2163+12T>C XP_016878661.1:n.2163+12T>C
XM_017023173.1:c.2163+12T>C XP_016878662.1:n.2163+12T>C
NM_001134407.3:c.2007+12T>C MANE Select NP_001127879.1:n.2007+12T>C
NM_000833.5:c.2007+12T>C NP_000824.1:n.2007+12T>C