Canonical Allele Identifier: CA394706479

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2141128057
• COSMIC: COSM5685248
• MyVariant Identifiers: chr16:g.9857442A>G (hg19) ; chr16:g.9763585A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763585A>G , CM000678.2:g.9763585A>G	GRCh38
NC_000016.9:g.9857442A>G , CM000678.1:g.9857442A>G	GRCh37
NC_000016.8:g.9764943A>G	NCBI36
NG_011812.1:g.424170T>C
NG_011812.2:g.424170T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3959T>C MANE Select	ENSP00000332549.3:p.Leu1320Pro
ENST00000535259.6:c.3302-157T>C	ENSP00000441572.3:n.3302-157T>C
ENST00000636273.2:n.3366-157T>C
ENST00000674742.1:c.3488T>C	ENSP00000502200.1:p.Leu1163Pro
ENST00000675398.1:c.*1329T>C	ENSP00000502752.1:n.*1329T>C
ENST00000330684.3:c.3959T>C	ENSP00000332549.3:p.Leu1320Pro
ENST00000396573.6:c.3959T>C	ENSP00000379818.2:p.Leu1320Pro
ENST00000396575.6:c.3548T>C	ENSP00000379820.3:p.Leu1183Pro
ENST00000461292.3:n.3412-157T>C
ENST00000535259.5:c.3362-157T>C	ENSP00000441572.2:n.3362-157T>C
ENST00000562109.5:c.3773-157T>C	ENSP00000454998.1:n.3773-157T>C
NM_000833.4:c.3959T>C	NP_000824.1:p.Leu1320Pro
NM_001134407.2:c.3959T>C	NP_001127879.1:p.Leu1320Pro
NM_001134408.2:c.3773-157T>C	NP_001127880.1:n.3773-157T>C
XM_011522456.1:c.3800T>C	XP_011520758.1:p.Leu1267Pro
XM_011522457.1:c.3701T>C	XP_011520759.1:p.Leu1234Pro
XM_011522458.1:c.3488T>C	XP_011520760.1:p.Leu1163Pro
XM_011522459.1:c.3488T>C	XP_011520761.1:p.Leu1163Pro
XM_011522460.1:c.3488T>C	XP_011520762.1:p.Leu1163Pro
XM_011522461.1:c.3773-157T>C	XP_011520763.1:n.3773-157T>C
XM_011522458.3:c.3488T>C	XP_011520760.1:p.Leu1163Pro
XM_011522461.3:c.3773-157T>C	XP_011520763.1:n.3773-157T>C
XM_017023172.1:c.4115T>C	XP_016878661.1:p.Leu1372Pro
XM_017023173.1:c.3929-157T>C	XP_016878662.1:n.3929-157T>C
NM_001134407.3:c.3959T>C MANE Select	NP_001127879.1:p.Leu1320Pro
NM_000833.5:c.3959T>C	NP_000824.1:p.Leu1320Pro