Canonical Allele Identifier: CA7896593

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 852926
• ClinVar RCV Id: RCV001057644 ; RCV002282443 ; RCV002418504
• dbSNP Id: rs75130648
• ExAC: 16:9916265 T / G
• gnomAD v2: 16-9916265-T-G
• gnomAD v3: 16-9822408-T-G
• gnomAD v4: 16-9822408-T-G
• MyVariant Identifiers: chr16:g.9916265T>G (hg19) ; chr16:g.9822408T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9822408T>G , CM000678.2:g.9822408T>G	GRCh38
NC_000016.9:g.9916265T>G , CM000678.1:g.9916265T>G	GRCh37
NC_000016.8:g.9823766T>G	NCBI36
NG_011812.1:g.365347A>C
NG_011812.2:g.365347A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2024A>C MANE Select	ENSP00000332549.3:p.Asp675Ala
ENST00000535259.6:c.1553A>C	ENSP00000441572.3:p.Asp518Ala
ENST00000636273.2:n.1617A>C
ENST00000674742.1:c.1553A>C	ENSP00000502200.1:p.Asp518Ala
ENST00000675398.1:c.2024A>C	ENSP00000502752.1:p.Asp675Ala
ENST00000330684.3:c.2024A>C	ENSP00000332549.3:p.Asp675Ala
ENST00000396573.6:c.2024A>C	ENSP00000379818.2:p.Asp675Ala
ENST00000396575.6:c.1613A>C	ENSP00000379820.3:p.Asp538Ala
ENST00000461292.3:n.1663A>C
ENST00000535259.5:c.1613A>C	ENSP00000441572.2:p.Asp538Ala
ENST00000562109.5:c.2024A>C	ENSP00000454998.1:p.Asp675Ala
NM_000833.4:c.2024A>C	NP_000824.1:p.Asp675Ala
NM_001134407.2:c.2024A>C	NP_001127879.1:p.Asp675Ala
NM_001134408.2:c.2024A>C	NP_001127880.1:p.Asp675Ala
XM_011522456.1:c.1865A>C	XP_011520758.1:p.Asp622Ala
XM_011522457.1:c.1766A>C	XP_011520759.1:p.Asp589Ala
XM_011522458.1:c.1553A>C	XP_011520760.1:p.Asp518Ala
XM_011522459.1:c.1553A>C	XP_011520761.1:p.Asp518Ala
XM_011522460.1:c.1553A>C	XP_011520762.1:p.Asp518Ala
XM_011522461.1:c.2024A>C	XP_011520763.1:p.Asp675Ala
XM_011522458.3:c.1553A>C	XP_011520760.1:p.Asp518Ala
XM_011522461.3:c.2024A>C	XP_011520763.1:p.Asp675Ala
XM_017023172.1:c.2180A>C	XP_016878661.1:p.Asp727Ala
XM_017023173.1:c.2180A>C	XP_016878662.1:p.Asp727Ala
NM_001134407.3:c.2024A>C MANE Select	NP_001127879.1:p.Asp675Ala
NM_000833.5:c.2024A>C	NP_000824.1:p.Asp675Ala