Canonical Allele Identifier: CA394707863

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2141132264
• MyVariant Identifiers: chr16:g.9857962A>G (hg19) ; chr16:g.9764105A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764105A>G , CM000678.2:g.9764105A>G	GRCh38
NC_000016.9:g.9857962A>G , CM000678.1:g.9857962A>G	GRCh37
NC_000016.8:g.9765463A>G	NCBI36
NG_011812.1:g.423650T>C
NG_011812.2:g.423650T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3439T>C MANE Select	ENSP00000332549.3:p.Phe1147Leu
ENST00000535259.6:c.2968T>C	ENSP00000441572.3:p.Phe990Leu
ENST00000636273.2:n.3032T>C
ENST00000674742.1:c.2968T>C	ENSP00000502200.1:p.Phe990Leu
ENST00000675398.1:c.*809T>C	ENSP00000502752.1:n.*809T>C
ENST00000330684.3:c.3439T>C	ENSP00000332549.3:p.Phe1147Leu
ENST00000396573.6:c.3439T>C	ENSP00000379818.2:p.Phe1147Leu
ENST00000396575.6:c.3028T>C	ENSP00000379820.3:p.Phe1010Leu
ENST00000461292.3:n.3078T>C
ENST00000535259.5:c.3028T>C	ENSP00000441572.2:p.Phe1010Leu
ENST00000562109.5:c.3439T>C	ENSP00000454998.1:p.Phe1147Leu
NM_000833.4:c.3439T>C	NP_000824.1:p.Phe1147Leu
NM_001134407.2:c.3439T>C	NP_001127879.1:p.Phe1147Leu
NM_001134408.2:c.3439T>C	NP_001127880.1:p.Phe1147Leu
XM_011522456.1:c.3280T>C	XP_011520758.1:p.Phe1094Leu
XM_011522457.1:c.3181T>C	XP_011520759.1:p.Phe1061Leu
XM_011522458.1:c.2968T>C	XP_011520760.1:p.Phe990Leu
XM_011522459.1:c.2968T>C	XP_011520761.1:p.Phe990Leu
XM_011522460.1:c.2968T>C	XP_011520762.1:p.Phe990Leu
XM_011522461.1:c.3439T>C	XP_011520763.1:p.Phe1147Leu
XM_011522458.3:c.2968T>C	XP_011520760.1:p.Phe990Leu
XM_011522461.3:c.3439T>C	XP_011520763.1:p.Phe1147Leu
XM_017023172.1:c.3595T>C	XP_016878661.1:p.Phe1199Leu
XM_017023173.1:c.3595T>C	XP_016878662.1:p.Phe1199Leu
NM_001134407.3:c.3439T>C MANE Select	NP_001127879.1:p.Phe1147Leu
NM_000833.5:c.3439T>C	NP_000824.1:p.Phe1147Leu