Canonical Allele Identifier: CA7896431
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs780378454
gnomAD v2: 16-9858658-T-A
gnomAD v4: 16-9764801-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9764801T>A , CM000678.2:g.9764801T>A GRCh38
NC_000016.9:g.9858658T>A , CM000678.1:g.9858658T>A GRCh37
NC_000016.8:g.9766159T>A NCBI36
NG_011812.1:g.422954A>T
NG_011812.2:g.422954A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.2743A>T MANE Select ENSP00000332549.3:p.Met915Leu
ENST00000535259.6:c.2272A>T ENSP00000441572.3:p.Met758Leu
ENST00000636273.2:n.2336A>T
ENST00000674742.1:c.2272A>T ENSP00000502200.1:p.Met758Leu
ENST00000675398.1:c.*113A>T ENSP00000502752.1:n.*113A>T
ENST00000330684.3:c.2743A>T ENSP00000332549.3:p.Met915Leu
ENST00000396573.6:c.2743A>T ENSP00000379818.2:p.Met915Leu
ENST00000396575.6:c.2332A>T ENSP00000379820.3:p.Met778Leu
ENST00000461292.3:n.2382A>T
ENST00000535259.5:c.2332A>T ENSP00000441572.2:p.Met778Leu
ENST00000562109.5:c.2743A>T ENSP00000454998.1:p.Met915Leu
NM_000833.4:c.2743A>T NP_000824.1:p.Met915Leu
NM_001134407.2:c.2743A>T NP_001127879.1:p.Met915Leu
NM_001134408.2:c.2743A>T NP_001127880.1:p.Met915Leu
XM_011522456.1:c.2584A>T XP_011520758.1:p.Met862Leu
XM_011522457.1:c.2485A>T XP_011520759.1:p.Met829Leu
XM_011522458.1:c.2272A>T XP_011520760.1:p.Met758Leu
XM_011522459.1:c.2272A>T XP_011520761.1:p.Met758Leu
XM_011522460.1:c.2272A>T XP_011520762.1:p.Met758Leu
XM_011522461.1:c.2743A>T XP_011520763.1:p.Met915Leu
XM_011522458.3:c.2272A>T XP_011520760.1:p.Met758Leu
XM_011522461.3:c.2743A>T XP_011520763.1:p.Met915Leu
XM_017023172.1:c.2899A>T XP_016878661.1:p.Met967Leu
XM_017023173.1:c.2899A>T XP_016878662.1:p.Met967Leu
NM_001134407.3:c.2743A>T MANE Select NP_001127879.1:p.Met915Leu
NM_000833.5:c.2743A>T NP_000824.1:p.Met915Leu