Canonical Allele Identifier: CA394710109

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 803217
• ClinVar RCV Id: RCV000989525
• dbSNP Id: rs1064796608
• MyVariant Identifiers: chr16:g.9862853A>G (hg19) ; chr16:g.9768996A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9768996A>G , CM000678.2:g.9768996A>G	GRCh38
NC_000016.9:g.9862853A>G , CM000678.1:g.9862853A>G	GRCh37
NC_000016.8:g.9770354A>G	NCBI36
NG_011812.1:g.418759T>C
NG_011812.2:g.418759T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.2450T>C MANE Select	ENSP00000332549.3:p.Met817Thr
ENST00000535259.6:c.1979T>C	ENSP00000441572.3:p.Met660Thr
ENST00000636273.2:n.2043T>C
ENST00000674742.1:c.1979T>C	ENSP00000502200.1:p.Met660Thr
ENST00000675398.1:c.2357-4048T>C	ENSP00000502752.1:n.2357-4048T>C
ENST00000330684.3:c.2450T>C	ENSP00000332549.3:p.Met817Thr
ENST00000396573.6:c.2450T>C	ENSP00000379818.2:p.Met817Thr
ENST00000396575.6:c.2039T>C	ENSP00000379820.3:p.Met680Thr
ENST00000461292.3:n.2089T>C
ENST00000463531.1:n.233T>C
ENST00000535259.5:c.2039T>C	ENSP00000441572.2:p.Met680Thr
ENST00000562109.5:c.2450T>C	ENSP00000454998.1:p.Met817Thr
NM_000833.4:c.2450T>C	NP_000824.1:p.Met817Thr
NM_001134407.2:c.2450T>C	NP_001127879.1:p.Met817Thr
NM_001134408.2:c.2450T>C	NP_001127880.1:p.Met817Thr
XM_011522456.1:c.2291T>C	XP_011520758.1:p.Met764Thr
XM_011522457.1:c.2192T>C	XP_011520759.1:p.Met731Thr
XM_011522458.1:c.1979T>C	XP_011520760.1:p.Met660Thr
XM_011522459.1:c.1979T>C	XP_011520761.1:p.Met660Thr
XM_011522460.1:c.1979T>C	XP_011520762.1:p.Met660Thr
XM_011522461.1:c.2450T>C	XP_011520763.1:p.Met817Thr
XM_011522458.3:c.1979T>C	XP_011520760.1:p.Met660Thr
XM_011522461.3:c.2450T>C	XP_011520763.1:p.Met817Thr
XM_017023172.1:c.2606T>C	XP_016878661.1:p.Met869Thr
XM_017023173.1:c.2606T>C	XP_016878662.1:p.Met869Thr
NM_001134407.3:c.2450T>C MANE Select	NP_001127879.1:p.Met817Thr
NM_000833.5:c.2450T>C	NP_000824.1:p.Met817Thr