Canonical Allele Identifier: CA394798603
Gene: GRIN2A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9938224G>T , CM000678.2:g.9938224G>T GRCh38
NC_000016.9:g.10032081G>T , CM000678.1:g.10032081G>T GRCh37
NC_000016.8:g.9939582G>T NCBI36
NG_011812.1:g.249531C>A
NG_011812.2:g.249531C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000330684.4:c.742C>A MANE Select ENSP00000332549.3:p.Leu248Ile
ENST00000535259.6:c.271C>A ENSP00000441572.3:p.Leu91Ile
ENST00000636273.2:n.335C>A
ENST00000637393.1:c.334C>A ENSP00000490232.1:p.Leu112Ile
ENST00000674742.1:c.271C>A ENSP00000502200.1:p.Leu91Ile
ENST00000675189.1:n.1226C>A
ENST00000675398.1:c.742C>A ENSP00000502752.1:p.Leu248Ile
ENST00000330684.3:c.742C>A ENSP00000332549.3:p.Leu248Ile
ENST00000396573.6:c.742C>A ENSP00000379818.2:p.Leu248Ile
ENST00000396575.6:c.331C>A ENSP00000379820.3:p.Leu111Ile
ENST00000461292.3:n.381C>A
ENST00000535259.5:c.331C>A ENSP00000441572.2:p.Leu111Ile
ENST00000562109.5:c.742C>A ENSP00000454998.1:p.Leu248Ile
ENST00000566670.2:n.584C>A
ENST00000566683.1:n.241-47124C>A
ENST00000568247.3:n.634C>A
NM_000833.4:c.742C>A NP_000824.1:p.Leu248Ile
NM_001134407.2:c.742C>A NP_001127879.1:p.Leu248Ile
NM_001134408.2:c.742C>A NP_001127880.1:p.Leu248Ile
XM_011522456.1:c.583C>A XP_011520758.1:p.Leu195Ile
XM_011522457.1:c.484C>A XP_011520759.1:p.Leu162Ile
XM_011522458.1:c.271C>A XP_011520760.1:p.Leu91Ile
XM_011522459.1:c.271C>A XP_011520761.1:p.Leu91Ile
XM_011522460.1:c.271C>A XP_011520762.1:p.Leu91Ile
XM_011522461.1:c.742C>A XP_011520763.1:p.Leu248Ile
XM_011522458.3:c.271C>A XP_011520760.1:p.Leu91Ile
XM_011522461.3:c.742C>A XP_011520763.1:p.Leu248Ile
XM_017023172.1:c.898C>A XP_016878661.1:p.Leu300Ile
XM_017023173.1:c.898C>A XP_016878662.1:p.Leu300Ile
NM_001134407.3:c.742C>A MANE Select NP_001127879.1:p.Leu248Ile
NM_000833.5:c.742C>A NP_000824.1:p.Leu248Ile