Canonical Allele Identifier: CA394705904

Gene: GRIN2A

Linked Data

• gnomAD v4: 16-9763368-T-G
• MyVariant Identifiers: chr16:g.9857225T>G (hg19) ; chr16:g.9763368T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763368T>G , CM000678.2:g.9763368T>G	GRCh38
NC_000016.9:g.9857225T>G , CM000678.1:g.9857225T>G	GRCh37
NC_000016.8:g.9764726T>G	NCBI36
NG_011812.1:g.424387A>C
NG_011812.2:g.424387A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4176A>C MANE Select	ENSP00000332549.3:p.Pro1392=
ENST00000535259.6:c.3362A>C	ENSP00000441572.3:p.His1121Pro
ENST00000636273.2:n.3426A>C
ENST00000674742.1:c.3705A>C	ENSP00000502200.1:p.Pro1235=
ENST00000675398.1:c.*1546A>C	ENSP00000502752.1:n.*1546A>C
ENST00000330684.3:c.4176A>C	ENSP00000332549.3:p.Pro1392=
ENST00000396573.6:c.4176A>C	ENSP00000379818.2:p.Pro1392=
ENST00000396575.6:c.3765A>C	ENSP00000379820.3:p.Pro1255=
ENST00000461292.3:n.3472A>C
ENST00000535259.5:c.3422A>C	ENSP00000441572.2:p.His1141Pro
ENST00000562109.5:c.3833A>C	ENSP00000454998.1:p.His1278Pro
NM_000833.4:c.4176A>C	NP_000824.1:p.Pro1392=
NM_001134407.2:c.4176A>C	NP_001127879.1:p.Pro1392=
NM_001134408.2:c.3833A>C	NP_001127880.1:p.His1278Pro
XM_011522456.1:c.4017A>C	XP_011520758.1:p.Pro1339=
XM_011522457.1:c.3918A>C	XP_011520759.1:p.Pro1306=
XM_011522458.1:c.3705A>C	XP_011520760.1:p.Pro1235=
XM_011522459.1:c.3705A>C	XP_011520761.1:p.Pro1235=
XM_011522460.1:c.3705A>C	XP_011520762.1:p.Pro1235=
XM_011522461.1:c.3833A>C	XP_011520763.1:p.His1278Pro
XM_011522458.3:c.3705A>C	XP_011520760.1:p.Pro1235=
XM_011522461.3:c.3833A>C	XP_011520763.1:p.His1278Pro
XM_017023172.1:c.4332A>C	XP_016878661.1:p.Pro1444=
XM_017023173.1:c.3989A>C	XP_016878662.1:p.His1330Pro
NM_001134407.3:c.4176A>C MANE Select	NP_001127879.1:p.Pro1392=
NM_000833.5:c.4176A>C	NP_000824.1:p.Pro1392=