Canonical Allele Identifier: CA1139664487

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 975936
• ClinVar RCV Id: RCV001253076
• dbSNP Id: rs2050235998

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180235_10180238dup , CM000678.2:g.10180235_10180238dup	GRCh38
NC_000016.9:g.10274092_10274095dup , CM000678.1:g.10274092_10274095dup	GRCh37
NC_000016.8:g.10181593_10181596dup	NCBI36
NG_011812.1:g.7519_7522dup
NG_011812.2:g.7519_7522dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.176_179dup MANE Select	ENSP00000332549.3:p.Ala61GlyfsTer?
ENST00000675189.1:n.660_663dup
ENST00000675398.1:c.176_179dup	ENSP00000502752.1:p.Ala61GlyfsTer?
ENST00000676032.1:n.609_612dup
ENST00000330684.3:c.176_179dup	ENSP00000332549.3:p.Ala61GlyfsTer?
ENST00000396573.6:c.176_179dup	ENSP00000379818.2:p.Ala61GlyfsTer?
ENST00000562109.5:c.176_179dup	ENSP00000454998.1:p.Ala61GlyfsTer?
ENST00000566665.1:n.577_580dup
NM_000833.4:c.176_179dup	NP_000824.1:p.Ala61GlyfsTer?
NM_001134407.2:c.176_179dup	NP_001127879.1:p.Ala61GlyfsTer?
NM_001134408.2:c.176_179dup	NP_001127880.1:p.Ala61GlyfsTer?
XM_011522461.1:c.176_179dup	XP_011520763.1:p.Ala61GlyfsTer?
XM_011522461.3:c.176_179dup	XP_011520763.1:p.Ala61GlyfsTer?
XM_017023172.1:c.332_335dup	XP_016878661.1:p.Ala113GlyfsTer?
XM_017023173.1:c.332_335dup	XP_016878662.1:p.Ala113GlyfsTer?
NM_001134407.3:c.176_179dup MANE Select	NP_001127879.1:p.Ala61GlyfsTer?
NM_000833.5:c.176_179dup	NP_000824.1:p.Ala61GlyfsTer?