Canonical Allele Identifier: CA394800412

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2141343077
• COSMIC: COSM5609010
• MyVariant Identifiers: chr16:g.9934614A>G (hg19) ; chr16:g.9840757A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9840757A>G , CM000678.2:g.9840757A>G	GRCh38
NC_000016.9:g.9934614A>G , CM000678.1:g.9934614A>G	GRCh37
NC_000016.8:g.9842115A>G	NCBI36
NG_011812.1:g.346998T>C
NG_011812.2:g.346998T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.1541T>C MANE Select	ENSP00000332549.3:p.Ile514Thr
ENST00000535259.6:c.1070T>C	ENSP00000441572.3:p.Ile357Thr
ENST00000636273.2:n.1134T>C
ENST00000674742.1:c.1070T>C	ENSP00000502200.1:p.Ile357Thr
ENST00000675189.1:n.2025T>C
ENST00000675398.1:c.1541T>C	ENSP00000502752.1:p.Ile514Thr
ENST00000330684.3:c.1541T>C	ENSP00000332549.3:p.Ile514Thr
ENST00000396573.6:c.1541T>C	ENSP00000379818.2:p.Ile514Thr
ENST00000396575.6:c.1130T>C	ENSP00000379820.3:p.Ile377Thr
ENST00000461292.3:n.1180T>C
ENST00000535259.5:c.1130T>C	ENSP00000441572.2:p.Ile377Thr
ENST00000562109.5:c.1541T>C	ENSP00000454998.1:p.Ile514Thr
NM_000833.4:c.1541T>C	NP_000824.1:p.Ile514Thr
NM_001134407.2:c.1541T>C	NP_001127879.1:p.Ile514Thr
NM_001134408.2:c.1541T>C	NP_001127880.1:p.Ile514Thr
XM_011522456.1:c.1382T>C	XP_011520758.1:p.Ile461Thr
XM_011522457.1:c.1283T>C	XP_011520759.1:p.Ile428Thr
XM_011522458.1:c.1070T>C	XP_011520760.1:p.Ile357Thr
XM_011522459.1:c.1070T>C	XP_011520761.1:p.Ile357Thr
XM_011522460.1:c.1070T>C	XP_011520762.1:p.Ile357Thr
XM_011522461.1:c.1541T>C	XP_011520763.1:p.Ile514Thr
XM_011522458.3:c.1070T>C	XP_011520760.1:p.Ile357Thr
XM_011522461.3:c.1541T>C	XP_011520763.1:p.Ile514Thr
XM_017023172.1:c.1697T>C	XP_016878661.1:p.Ile566Thr
XM_017023173.1:c.1697T>C	XP_016878662.1:p.Ile566Thr
NM_001134407.3:c.1541T>C MANE Select	NP_001127879.1:p.Ile514Thr
NM_000833.5:c.1541T>C	NP_000824.1:p.Ile514Thr