Canonical Allele Identifier: CA394798112

Gene: GRIN2A

Linked Data

• gnomAD v4: 16-9937998-T-G
• MyVariant Identifiers: chr16:g.10031855T>G (hg19) ; chr16:g.9937998T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9937998T>G , CM000678.2:g.9937998T>G	GRCh38
NC_000016.9:g.10031855T>G , CM000678.1:g.10031855T>G	GRCh37
NC_000016.8:g.9939356T>G	NCBI36
NG_011812.1:g.249757A>C
NG_011812.2:g.249757A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.968A>C MANE Select	ENSP00000332549.3:p.Gln323Pro
ENST00000535259.6:c.497A>C	ENSP00000441572.3:p.Gln166Pro
ENST00000636273.2:n.561A>C
ENST00000637393.1:c.560A>C	ENSP00000490232.1:p.Gln187Pro
ENST00000674742.1:c.497A>C	ENSP00000502200.1:p.Gln166Pro
ENST00000675189.1:n.1452A>C
ENST00000675398.1:c.968A>C	ENSP00000502752.1:p.Gln323Pro
ENST00000330684.3:c.968A>C	ENSP00000332549.3:p.Gln323Pro
ENST00000396573.6:c.968A>C	ENSP00000379818.2:p.Gln323Pro
ENST00000396575.6:c.557A>C	ENSP00000379820.3:p.Gln186Pro
ENST00000461292.3:n.607A>C
ENST00000535259.5:c.557A>C	ENSP00000441572.2:p.Gln186Pro
ENST00000562109.5:c.968A>C	ENSP00000454998.1:p.Gln323Pro
ENST00000566683.1:n.241-46898A>C
ENST00000568247.3:n.860A>C
NM_000833.4:c.968A>C	NP_000824.1:p.Gln323Pro
NM_001134407.2:c.968A>C	NP_001127879.1:p.Gln323Pro
NM_001134408.2:c.968A>C	NP_001127880.1:p.Gln323Pro
XM_011522456.1:c.809A>C	XP_011520758.1:p.Gln270Pro
XM_011522457.1:c.710A>C	XP_011520759.1:p.Gln237Pro
XM_011522458.1:c.497A>C	XP_011520760.1:p.Gln166Pro
XM_011522459.1:c.497A>C	XP_011520761.1:p.Gln166Pro
XM_011522460.1:c.497A>C	XP_011520762.1:p.Gln166Pro
XM_011522461.1:c.968A>C	XP_011520763.1:p.Gln323Pro
XM_011522458.3:c.497A>C	XP_011520760.1:p.Gln166Pro
XM_011522461.3:c.968A>C	XP_011520763.1:p.Gln323Pro
XM_017023172.1:c.1124A>C	XP_016878661.1:p.Gln375Pro
XM_017023173.1:c.1124A>C	XP_016878662.1:p.Gln375Pro
NM_001134407.3:c.968A>C MANE Select	NP_001127879.1:p.Gln323Pro
NM_000833.5:c.968A>C	NP_000824.1:p.Gln323Pro