Canonical Allele Identifier: CA394706360
Gene: GRIN2A HGNC NCBI

Linked Data

gnomAD v4: 16-9763535-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9763535A>C , CM000678.2:g.9763535A>C GRCh38
NC_000016.9:g.9857392A>C , CM000678.1:g.9857392A>C GRCh37
NC_000016.8:g.9764893A>C NCBI36
NG_011812.1:g.424220T>G
NG_011812.2:g.424220T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.4009T>G MANE Select ENSP00000332549.3:p.Ser1337Ala
ENST00000535259.6:c.3302-107T>G ENSP00000441572.3:n.3302-107T>G
ENST00000636273.2:n.3366-107T>G
ENST00000674742.1:c.3538T>G ENSP00000502200.1:p.Ser1180Ala
ENST00000675398.1:c.*1379T>G ENSP00000502752.1:n.*1379T>G
ENST00000330684.3:c.4009T>G ENSP00000332549.3:p.Ser1337Ala
ENST00000396573.6:c.4009T>G ENSP00000379818.2:p.Ser1337Ala
ENST00000396575.6:c.3598T>G ENSP00000379820.3:p.Ser1200Ala
ENST00000461292.3:n.3412-107T>G
ENST00000535259.5:c.3362-107T>G ENSP00000441572.2:n.3362-107T>G
ENST00000562109.5:c.3773-107T>G ENSP00000454998.1:n.3773-107T>G
NM_000833.4:c.4009T>G NP_000824.1:p.Ser1337Ala
NM_001134407.2:c.4009T>G NP_001127879.1:p.Ser1337Ala
NM_001134408.2:c.3773-107T>G NP_001127880.1:n.3773-107T>G
XM_011522456.1:c.3850T>G XP_011520758.1:p.Ser1284Ala
XM_011522457.1:c.3751T>G XP_011520759.1:p.Ser1251Ala
XM_011522458.1:c.3538T>G XP_011520760.1:p.Ser1180Ala
XM_011522459.1:c.3538T>G XP_011520761.1:p.Ser1180Ala
XM_011522460.1:c.3538T>G XP_011520762.1:p.Ser1180Ala
XM_011522461.1:c.3773-107T>G XP_011520763.1:n.3773-107T>G
XM_011522458.3:c.3538T>G XP_011520760.1:p.Ser1180Ala
XM_011522461.3:c.3773-107T>G XP_011520763.1:n.3773-107T>G
XM_017023172.1:c.4165T>G XP_016878661.1:p.Ser1389Ala
XM_017023173.1:c.3929-107T>G XP_016878662.1:n.3929-107T>G
NM_001134407.3:c.4009T>G MANE Select NP_001127879.1:p.Ser1337Ala
NM_000833.5:c.4009T>G NP_000824.1:p.Ser1337Ala