Canonical Allele Identifier: CA493692808
Gene: GRIN2A HGNC NCBI

Linked Data

dbSNP Id: rs2141127859
MyVariant Identifiers: chr16:g.9857420G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9763563G>A , CM000678.2:g.9763563G>A GRCh38
NC_000016.9:g.9857420G>A , CM000678.1:g.9857420G>A GRCh37
NC_000016.8:g.9764921G>A NCBI36
NG_011812.1:g.424192C>T
NG_011812.2:g.424192C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.3981C>T MANE Select ENSP00000332549.3:p.Ser1327=
ENST00000535259.6:c.3302-135C>T ENSP00000441572.3:n.3302-135C>T
ENST00000636273.2:n.3366-135C>T
ENST00000674742.1:c.3510C>T ENSP00000502200.1:p.Ser1170=
ENST00000675398.1:c.*1351C>T ENSP00000502752.1:n.*1351C>T
ENST00000330684.3:c.3981C>T ENSP00000332549.3:p.Ser1327=
ENST00000396573.6:c.3981C>T ENSP00000379818.2:p.Ser1327=
ENST00000396575.6:c.3570C>T ENSP00000379820.3:p.Ser1190=
ENST00000461292.3:n.3412-135C>T
ENST00000535259.5:c.3362-135C>T ENSP00000441572.2:n.3362-135C>T
ENST00000562109.5:c.3773-135C>T ENSP00000454998.1:n.3773-135C>T
NM_000833.4:c.3981C>T NP_000824.1:p.Ser1327=
NM_001134407.2:c.3981C>T NP_001127879.1:p.Ser1327=
NM_001134408.2:c.3773-135C>T NP_001127880.1:n.3773-135C>T
XM_011522456.1:c.3822C>T XP_011520758.1:p.Ser1274=
XM_011522457.1:c.3723C>T XP_011520759.1:p.Ser1241=
XM_011522458.1:c.3510C>T XP_011520760.1:p.Ser1170=
XM_011522459.1:c.3510C>T XP_011520761.1:p.Ser1170=
XM_011522460.1:c.3510C>T XP_011520762.1:p.Ser1170=
XM_011522461.1:c.3773-135C>T XP_011520763.1:n.3773-135C>T
XM_011522458.3:c.3510C>T XP_011520760.1:p.Ser1170=
XM_011522461.3:c.3773-135C>T XP_011520763.1:n.3773-135C>T
XM_017023172.1:c.4137C>T XP_016878661.1:p.Ser1379=
XM_017023173.1:c.3929-135C>T XP_016878662.1:n.3929-135C>T
NM_001134407.3:c.3981C>T MANE Select NP_001127879.1:p.Ser1327=
NM_000833.5:c.3981C>T NP_000824.1:p.Ser1327=