Canonical Allele Identifier: CA394708071

Gene: GRIN2A

Linked Data

• dbSNP Id: rs1313058740
• COSMIC: COSM225733
• MyVariant Identifiers: chr16:g.9858055T>A (hg19) ; chr16:g.9764198T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764198T>A , CM000678.2:g.9764198T>A	GRCh38
NC_000016.9:g.9858055T>A , CM000678.1:g.9858055T>A	GRCh37
NC_000016.8:g.9765556T>A	NCBI36
NG_011812.1:g.423557A>T
NG_011812.2:g.423557A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3346A>T MANE Select	ENSP00000332549.3:p.Lys1116Ter
ENST00000535259.6:c.2875A>T	ENSP00000441572.3:p.Lys959Ter
ENST00000636273.2:n.2939A>T
ENST00000674742.1:c.2875A>T	ENSP00000502200.1:p.Lys959Ter
ENST00000675398.1:c.*716A>T	ENSP00000502752.1:n.*716A>T
ENST00000330684.3:c.3346A>T	ENSP00000332549.3:p.Lys1116Ter
ENST00000396573.6:c.3346A>T	ENSP00000379818.2:p.Lys1116Ter
ENST00000396575.6:c.2935A>T	ENSP00000379820.3:p.Lys979Ter
ENST00000461292.3:n.2985A>T
ENST00000535259.5:c.2935A>T	ENSP00000441572.2:p.Lys979Ter
ENST00000562109.5:c.3346A>T	ENSP00000454998.1:p.Lys1116Ter
NM_000833.4:c.3346A>T	NP_000824.1:p.Lys1116Ter
NM_001134407.2:c.3346A>T	NP_001127879.1:p.Lys1116Ter
NM_001134408.2:c.3346A>T	NP_001127880.1:p.Lys1116Ter
XM_011522456.1:c.3187A>T	XP_011520758.1:p.Lys1063Ter
XM_011522457.1:c.3088A>T	XP_011520759.1:p.Lys1030Ter
XM_011522458.1:c.2875A>T	XP_011520760.1:p.Lys959Ter
XM_011522459.1:c.2875A>T	XP_011520761.1:p.Lys959Ter
XM_011522460.1:c.2875A>T	XP_011520762.1:p.Lys959Ter
XM_011522461.1:c.3346A>T	XP_011520763.1:p.Lys1116Ter
XM_011522458.3:c.2875A>T	XP_011520760.1:p.Lys959Ter
XM_011522461.3:c.3346A>T	XP_011520763.1:p.Lys1116Ter
XM_017023172.1:c.3502A>T	XP_016878661.1:p.Lys1168Ter
XM_017023173.1:c.3502A>T	XP_016878662.1:p.Lys1168Ter
NM_001134407.3:c.3346A>T MANE Select	NP_001127879.1:p.Lys1116Ter
NM_000833.5:c.3346A>T	NP_000824.1:p.Lys1116Ter