Canonical Allele Identifier: CA394705940

Gene: GRIN2A

Linked Data

• dbSNP Id: rs1490443176
• gnomAD v2: 16-9857239-T-G
• gnomAD v4: 16-9763382-T-G
• MyVariant Identifiers: chr16:g.9857239T>G (hg19) ; chr16:g.9763382T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763382T>G , CM000678.2:g.9763382T>G	GRCh38
NC_000016.9:g.9857239T>G , CM000678.1:g.9857239T>G	GRCh37
NC_000016.8:g.9764740T>G	NCBI36
NG_011812.1:g.424373A>C
NG_011812.2:g.424373A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4162A>C MANE Select	ENSP00000332549.3:p.Lys1388Gln
ENST00000535259.6:c.3348A>C	ENSP00000441572.3:p.Thr1116=
ENST00000636273.2:n.3412A>C
ENST00000674742.1:c.3691A>C	ENSP00000502200.1:p.Lys1231Gln
ENST00000675398.1:c.*1532A>C	ENSP00000502752.1:n.*1532A>C
ENST00000330684.3:c.4162A>C	ENSP00000332549.3:p.Lys1388Gln
ENST00000396573.6:c.4162A>C	ENSP00000379818.2:p.Lys1388Gln
ENST00000396575.6:c.3751A>C	ENSP00000379820.3:p.Lys1251Gln
ENST00000461292.3:n.3458A>C
ENST00000535259.5:c.3408A>C	ENSP00000441572.2:p.Thr1136=
ENST00000562109.5:c.3819A>C	ENSP00000454998.1:p.Thr1273=
NM_000833.4:c.4162A>C	NP_000824.1:p.Lys1388Gln
NM_001134407.2:c.4162A>C	NP_001127879.1:p.Lys1388Gln
NM_001134408.2:c.3819A>C	NP_001127880.1:p.Thr1273=
XM_011522456.1:c.4003A>C	XP_011520758.1:p.Lys1335Gln
XM_011522457.1:c.3904A>C	XP_011520759.1:p.Lys1302Gln
XM_011522458.1:c.3691A>C	XP_011520760.1:p.Lys1231Gln
XM_011522459.1:c.3691A>C	XP_011520761.1:p.Lys1231Gln
XM_011522460.1:c.3691A>C	XP_011520762.1:p.Lys1231Gln
XM_011522461.1:c.3819A>C	XP_011520763.1:p.Thr1273=
XM_011522458.3:c.3691A>C	XP_011520760.1:p.Lys1231Gln
XM_011522461.3:c.3819A>C	XP_011520763.1:p.Thr1273=
XM_017023172.1:c.4318A>C	XP_016878661.1:p.Lys1440Gln
XM_017023173.1:c.3975A>C	XP_016878662.1:p.Thr1325=
NM_001134407.3:c.4162A>C MANE Select	NP_001127879.1:p.Lys1388Gln
NM_000833.5:c.4162A>C	NP_000824.1:p.Lys1388Gln