Canonical Allele Identifier: CA7896388
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs749997301
gnomAD v2: 16-9858396-G-T
gnomAD v4: 16-9764539-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9764539G>T , CM000678.2:g.9764539G>T GRCh38
NC_000016.9:g.9858396G>T , CM000678.1:g.9858396G>T GRCh37
NC_000016.8:g.9765897G>T NCBI36
NG_011812.1:g.423216C>A
NG_011812.2:g.423216C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.3005C>A MANE Select ENSP00000332549.3:p.Thr1002Lys
ENST00000535259.6:c.2534C>A ENSP00000441572.3:p.Thr845Lys
ENST00000636273.2:n.2598C>A
ENST00000674742.1:c.2534C>A ENSP00000502200.1:p.Thr845Lys
ENST00000675398.1:c.*375C>A ENSP00000502752.1:n.*375C>A
ENST00000330684.3:c.3005C>A ENSP00000332549.3:p.Thr1002Lys
ENST00000396573.6:c.3005C>A ENSP00000379818.2:p.Thr1002Lys
ENST00000396575.6:c.2594C>A ENSP00000379820.3:p.Thr865Lys
ENST00000461292.3:n.2644C>A
ENST00000535259.5:c.2594C>A ENSP00000441572.2:p.Thr865Lys
ENST00000562109.5:c.3005C>A ENSP00000454998.1:p.Thr1002Lys
NM_000833.4:c.3005C>A NP_000824.1:p.Thr1002Lys
NM_001134407.2:c.3005C>A NP_001127879.1:p.Thr1002Lys
NM_001134408.2:c.3005C>A NP_001127880.1:p.Thr1002Lys
XM_011522456.1:c.2846C>A XP_011520758.1:p.Thr949Lys
XM_011522457.1:c.2747C>A XP_011520759.1:p.Thr916Lys
XM_011522458.1:c.2534C>A XP_011520760.1:p.Thr845Lys
XM_011522459.1:c.2534C>A XP_011520761.1:p.Thr845Lys
XM_011522460.1:c.2534C>A XP_011520762.1:p.Thr845Lys
XM_011522461.1:c.3005C>A XP_011520763.1:p.Thr1002Lys
XM_011522458.3:c.2534C>A XP_011520760.1:p.Thr845Lys
XM_011522461.3:c.3005C>A XP_011520763.1:p.Thr1002Lys
XM_017023172.1:c.3161C>A XP_016878661.1:p.Thr1054Lys
XM_017023173.1:c.3161C>A XP_016878662.1:p.Thr1054Lys
NM_001134407.3:c.3005C>A MANE Select NP_001127879.1:p.Thr1002Lys
NM_000833.5:c.3005C>A NP_000824.1:p.Thr1002Lys