Canonical Allele Identifier: CA394706165
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs2141126933

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9763474A>G , CM000678.2:g.9763474A>G GRCh38
NC_000016.9:g.9857331A>G , CM000678.1:g.9857331A>G GRCh37
NC_000016.8:g.9764832A>G NCBI36
NG_011812.1:g.424281T>C
NG_011812.2:g.424281T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.4070T>C MANE Select ENSP00000332549.3:p.Leu1357Pro
ENST00000535259.6:c.3302-46T>C ENSP00000441572.3:n.3302-46T>C
ENST00000636273.2:n.3366-46T>C
ENST00000674742.1:c.3599T>C ENSP00000502200.1:p.Leu1200Pro
ENST00000675398.1:c.*1440T>C ENSP00000502752.1:n.*1440T>C
ENST00000330684.3:c.4070T>C ENSP00000332549.3:p.Leu1357Pro
ENST00000396573.6:c.4070T>C ENSP00000379818.2:p.Leu1357Pro
ENST00000396575.6:c.3659T>C ENSP00000379820.3:p.Leu1220Pro
ENST00000461292.3:n.3412-46T>C
ENST00000535259.5:c.3362-46T>C ENSP00000441572.2:n.3362-46T>C
ENST00000562109.5:c.3773-46T>C ENSP00000454998.1:n.3773-46T>C
NM_000833.4:c.4070T>C NP_000824.1:p.Leu1357Pro
NM_001134407.2:c.4070T>C NP_001127879.1:p.Leu1357Pro
NM_001134408.2:c.3773-46T>C NP_001127880.1:n.3773-46T>C
XM_011522456.1:c.3911T>C XP_011520758.1:p.Leu1304Pro
XM_011522457.1:c.3812T>C XP_011520759.1:p.Leu1271Pro
XM_011522458.1:c.3599T>C XP_011520760.1:p.Leu1200Pro
XM_011522459.1:c.3599T>C XP_011520761.1:p.Leu1200Pro
XM_011522460.1:c.3599T>C XP_011520762.1:p.Leu1200Pro
XM_011522461.1:c.3773-46T>C XP_011520763.1:n.3773-46T>C
XM_011522458.3:c.3599T>C XP_011520760.1:p.Leu1200Pro
XM_011522461.3:c.3773-46T>C XP_011520763.1:n.3773-46T>C
XM_017023172.1:c.4226T>C XP_016878661.1:p.Leu1409Pro
XM_017023173.1:c.3929-46T>C XP_016878662.1:n.3929-46T>C
NM_001134407.3:c.4070T>C MANE Select NP_001127879.1:p.Leu1357Pro
NM_000833.5:c.4070T>C NP_000824.1:p.Leu1357Pro