Canonical Allele Identifier: CA394799264

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1325866
• ClinVar RCV Id: RCV001785403
• dbSNP Id: rs2141312286
• MyVariant Identifiers: chr16:g.9923330T>C (hg19) ; chr16:g.9829473T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9829473T>C , CM000678.2:g.9829473T>C	GRCh38
NC_000016.9:g.9923330T>C , CM000678.1:g.9923330T>C	GRCh37
NC_000016.8:g.9830831T>C	NCBI36
NG_011812.1:g.358282A>G
NG_011812.2:g.358282A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.1957A>G MANE Select	ENSP00000332549.3:p.Met653Val
ENST00000535259.6:c.1486A>G	ENSP00000441572.3:p.Met496Val
ENST00000636273.2:n.1550A>G
ENST00000674742.1:c.1486A>G	ENSP00000502200.1:p.Met496Val
ENST00000675398.1:c.1957A>G	ENSP00000502752.1:p.Met653Val
ENST00000330684.3:c.1957A>G	ENSP00000332549.3:p.Met653Val
ENST00000396573.6:c.1957A>G	ENSP00000379818.2:p.Met653Val
ENST00000396575.6:c.1546A>G	ENSP00000379820.3:p.Met516Val
ENST00000461292.3:n.1596A>G
ENST00000535259.5:c.1546A>G	ENSP00000441572.2:p.Met516Val
ENST00000562109.5:c.1957A>G	ENSP00000454998.1:p.Met653Val
NM_000833.4:c.1957A>G	NP_000824.1:p.Met653Val
NM_001134407.2:c.1957A>G	NP_001127879.1:p.Met653Val
NM_001134408.2:c.1957A>G	NP_001127880.1:p.Met653Val
XM_011522456.1:c.1798A>G	XP_011520758.1:p.Met600Val
XM_011522457.1:c.1699A>G	XP_011520759.1:p.Met567Val
XM_011522458.1:c.1486A>G	XP_011520760.1:p.Met496Val
XM_011522459.1:c.1486A>G	XP_011520761.1:p.Met496Val
XM_011522460.1:c.1486A>G	XP_011520762.1:p.Met496Val
XM_011522461.1:c.1957A>G	XP_011520763.1:p.Met653Val
XM_011522458.3:c.1486A>G	XP_011520760.1:p.Met496Val
XM_011522461.3:c.1957A>G	XP_011520763.1:p.Met653Val
XM_017023172.1:c.2113A>G	XP_016878661.1:p.Met705Val
XM_017023173.1:c.2113A>G	XP_016878662.1:p.Met705Val
NM_001134407.3:c.1957A>G MANE Select	NP_001127879.1:p.Met653Val
NM_000833.5:c.1957A>G	NP_000824.1:p.Met653Val