Canonical Allele Identifier: CA394705995

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2141126230
• gnomAD v4: 16-9763402-C-G
• MyVariant Identifiers: chr16:g.9857259C>G (hg19) ; chr16:g.9763402C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763402C>G , CM000678.2:g.9763402C>G	GRCh38
NC_000016.9:g.9857259C>G , CM000678.1:g.9857259C>G	GRCh37
NC_000016.8:g.9764760C>G	NCBI36
NG_011812.1:g.424353G>C
NG_011812.2:g.424353G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4142G>C MANE Select	ENSP00000332549.3:p.Arg1381Thr
ENST00000535259.6:c.3328G>C	ENSP00000441572.3:p.Asp1110His
ENST00000636273.2:n.3392G>C
ENST00000674742.1:c.3671G>C	ENSP00000502200.1:p.Arg1224Thr
ENST00000675398.1:c.*1512G>C	ENSP00000502752.1:n.*1512G>C
ENST00000330684.3:c.4142G>C	ENSP00000332549.3:p.Arg1381Thr
ENST00000396573.6:c.4142G>C	ENSP00000379818.2:p.Arg1381Thr
ENST00000396575.6:c.3731G>C	ENSP00000379820.3:p.Arg1244Thr
ENST00000461292.3:n.3438G>C
ENST00000535259.5:c.3388G>C	ENSP00000441572.2:p.Asp1130His
ENST00000562109.5:c.3799G>C	ENSP00000454998.1:p.Asp1267His
NM_000833.4:c.4142G>C	NP_000824.1:p.Arg1381Thr
NM_001134407.2:c.4142G>C	NP_001127879.1:p.Arg1381Thr
NM_001134408.2:c.3799G>C	NP_001127880.1:p.Asp1267His
XM_011522456.1:c.3983G>C	XP_011520758.1:p.Arg1328Thr
XM_011522457.1:c.3884G>C	XP_011520759.1:p.Arg1295Thr
XM_011522458.1:c.3671G>C	XP_011520760.1:p.Arg1224Thr
XM_011522459.1:c.3671G>C	XP_011520761.1:p.Arg1224Thr
XM_011522460.1:c.3671G>C	XP_011520762.1:p.Arg1224Thr
XM_011522461.1:c.3799G>C	XP_011520763.1:p.Asp1267His
XM_011522458.3:c.3671G>C	XP_011520760.1:p.Arg1224Thr
XM_011522461.3:c.3799G>C	XP_011520763.1:p.Asp1267His
XM_017023172.1:c.4298G>C	XP_016878661.1:p.Arg1433Thr
XM_017023173.1:c.3955G>C	XP_016878662.1:p.Asp1319His
NM_001134407.3:c.4142G>C MANE Select	NP_001127879.1:p.Arg1381Thr
NM_000833.5:c.4142G>C	NP_000824.1:p.Arg1381Thr