Canonical Allele Identifier: CA7896204
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs779614780
gnomAD v2: 16-9857234-G-A
gnomAD v4: 16-9763377-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9763377G>A , CM000678.2:g.9763377G>A GRCh38
NC_000016.9:g.9857234G>A , CM000678.1:g.9857234G>A GRCh37
NC_000016.8:g.9764735G>A NCBI36
NG_011812.1:g.424378C>T
NG_011812.2:g.424378C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.4167C>T MANE Select ENSP00000332549.3:p.His1389=
ENST00000535259.6:c.3353C>T ENSP00000441572.3:p.Thr1118Ile
ENST00000636273.2:n.3417C>T
ENST00000674742.1:c.3696C>T ENSP00000502200.1:p.His1232=
ENST00000675398.1:c.*1537C>T ENSP00000502752.1:n.*1537C>T
ENST00000330684.3:c.4167C>T ENSP00000332549.3:p.His1389=
ENST00000396573.6:c.4167C>T ENSP00000379818.2:p.His1389=
ENST00000396575.6:c.3756C>T ENSP00000379820.3:p.His1252=
ENST00000461292.3:n.3463C>T
ENST00000535259.5:c.3413C>T ENSP00000441572.2:p.Thr1138Ile
ENST00000562109.5:c.3824C>T ENSP00000454998.1:p.Thr1275Ile
NM_000833.4:c.4167C>T NP_000824.1:p.His1389=
NM_001134407.2:c.4167C>T NP_001127879.1:p.His1389=
NM_001134408.2:c.3824C>T NP_001127880.1:p.Thr1275Ile
XM_011522456.1:c.4008C>T XP_011520758.1:p.His1336=
XM_011522457.1:c.3909C>T XP_011520759.1:p.His1303=
XM_011522458.1:c.3696C>T XP_011520760.1:p.His1232=
XM_011522459.1:c.3696C>T XP_011520761.1:p.His1232=
XM_011522460.1:c.3696C>T XP_011520762.1:p.His1232=
XM_011522461.1:c.3824C>T XP_011520763.1:p.Thr1275Ile
XM_011522458.3:c.3696C>T XP_011520760.1:p.His1232=
XM_011522461.3:c.3824C>T XP_011520763.1:p.Thr1275Ile
XM_017023172.1:c.4323C>T XP_016878661.1:p.His1441=
XM_017023173.1:c.3980C>T XP_016878662.1:p.Thr1327Ile
NM_001134407.3:c.4167C>T MANE Select NP_001127879.1:p.His1389=
NM_000833.5:c.4167C>T NP_000824.1:p.His1389=