Canonical Allele Identifier: CA394709518
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs1488512845
gnomAD v2: 16-9858687-G-T
gnomAD v4: 16-9764830-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9764830G>T , CM000678.2:g.9764830G>T GRCh38
NC_000016.9:g.9858687G>T , CM000678.1:g.9858687G>T GRCh37
NC_000016.8:g.9766188G>T NCBI36
NG_011812.1:g.422925C>A
NG_011812.2:g.422925C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.2714C>A MANE Select ENSP00000332549.3:p.Ser905Tyr
ENST00000535259.6:c.2243C>A ENSP00000441572.3:p.Ser748Tyr
ENST00000636273.2:n.2307C>A
ENST00000674742.1:c.2243C>A ENSP00000502200.1:p.Ser748Tyr
ENST00000675398.1:c.*84C>A ENSP00000502752.1:n.*84C>A
ENST00000330684.3:c.2714C>A ENSP00000332549.3:p.Ser905Tyr
ENST00000396573.6:c.2714C>A ENSP00000379818.2:p.Ser905Tyr
ENST00000396575.6:c.2303C>A ENSP00000379820.3:p.Ser768Tyr
ENST00000461292.3:n.2353C>A
ENST00000535259.5:c.2303C>A ENSP00000441572.2:p.Ser768Tyr
ENST00000562109.5:c.2714C>A ENSP00000454998.1:p.Ser905Tyr
NM_000833.4:c.2714C>A NP_000824.1:p.Ser905Tyr
NM_001134407.2:c.2714C>A NP_001127879.1:p.Ser905Tyr
NM_001134408.2:c.2714C>A NP_001127880.1:p.Ser905Tyr
XM_011522456.1:c.2555C>A XP_011520758.1:p.Ser852Tyr
XM_011522457.1:c.2456C>A XP_011520759.1:p.Ser819Tyr
XM_011522458.1:c.2243C>A XP_011520760.1:p.Ser748Tyr
XM_011522459.1:c.2243C>A XP_011520761.1:p.Ser748Tyr
XM_011522460.1:c.2243C>A XP_011520762.1:p.Ser748Tyr
XM_011522461.1:c.2714C>A XP_011520763.1:p.Ser905Tyr
XM_011522458.3:c.2243C>A XP_011520760.1:p.Ser748Tyr
XM_011522461.3:c.2714C>A XP_011520763.1:p.Ser905Tyr
XM_017023172.1:c.2870C>A XP_016878661.1:p.Ser957Tyr
XM_017023173.1:c.2870C>A XP_016878662.1:p.Ser957Tyr
NM_001134407.3:c.2714C>A MANE Select NP_001127879.1:p.Ser905Tyr
NM_000833.5:c.2714C>A NP_000824.1:p.Ser905Tyr