Canonical Allele Identifier: CA2499223891

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1069106
• ClinVar RCV Id: RCV001380855
• dbSNP Id: rs2141136701

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764714_9764715insACTGA , CM000678.2:g.9764714_9764715insACTGA	GRCh38
NC_000016.9:g.9858571_9858572insACTGA , CM000678.1:g.9858571_9858572insACTGA	GRCh37
NC_000016.8:g.9766072_9766073insACTGA	NCBI36
NG_011812.1:g.423044_423045insTTCAG
NG_011812.2:g.423044_423045insTTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2833_2834insTTCAG MANE Select	ENSP00000332549.3:p.Asp945ValfsTer18
ENST00000535259.6:c.2362_2363insTTCAG	ENSP00000441572.3:p.Asp788ValfsTer18
ENST00000636273.2:n.2426_2427insTTCAG
ENST00000674742.1:c.2362_2363insTTCAG	ENSP00000502200.1:p.Asp788ValfsTer18
ENST00000675398.1:c.*203_*204insTTCAG	ENSP00000502752.1:n.*203_*204insTTCAG
ENST00000330684.3:c.2833_2834insTTCAG	ENSP00000332549.3:p.Asp945ValfsTer18
ENST00000396573.6:c.2833_2834insTTCAG	ENSP00000379818.2:p.Asp945ValfsTer18
ENST00000396575.6:c.2422_2423insTTCAG	ENSP00000379820.3:p.Asp808ValfsTer18
ENST00000461292.3:n.2472_2473insTTCAG
ENST00000535259.5:c.2422_2423insTTCAG	ENSP00000441572.2:p.Asp808ValfsTer18
ENST00000562109.5:c.2833_2834insTTCAG	ENSP00000454998.1:p.Asp945ValfsTer18
NM_000833.4:c.2833_2834insTTCAG	NP_000824.1:p.Asp945ValfsTer18
NM_001134407.2:c.2833_2834insTTCAG	NP_001127879.1:p.Asp945ValfsTer18
NM_001134408.2:c.2833_2834insTTCAG	NP_001127880.1:p.Asp945ValfsTer18
XM_011522456.1:c.2674_2675insTTCAG	XP_011520758.1:p.Asp892ValfsTer18
XM_011522457.1:c.2575_2576insTTCAG	XP_011520759.1:p.Asp859ValfsTer18
XM_011522458.1:c.2362_2363insTTCAG	XP_011520760.1:p.Asp788ValfsTer18
XM_011522459.1:c.2362_2363insTTCAG	XP_011520761.1:p.Asp788ValfsTer18
XM_011522460.1:c.2362_2363insTTCAG	XP_011520762.1:p.Asp788ValfsTer18
XM_011522461.1:c.2833_2834insTTCAG	XP_011520763.1:p.Asp945ValfsTer18
XM_011522458.3:c.2362_2363insTTCAG	XP_011520760.1:p.Asp788ValfsTer18
XM_011522461.3:c.2833_2834insTTCAG	XP_011520763.1:p.Asp945ValfsTer18
XM_017023172.1:c.2989_2990insTTCAG	XP_016878661.1:p.Asp997ValfsTer18
XM_017023173.1:c.2989_2990insTTCAG	XP_016878662.1:p.Asp997ValfsTer18
NM_001134407.3:c.2833_2834insTTCAG MANE Select	NP_001127879.1:p.Asp945ValfsTer18
NM_000833.5:c.2833_2834insTTCAG	NP_000824.1:p.Asp945ValfsTer18