Canonical Allele Identifier: CA314974

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 205671
• ClinVar RCV Id: RCV000187657
• dbSNP Id: rs796052557
• MyVariant Identifiers: chr16:g.9858057T>A (hg19) ; chr16:g.9764200T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764200T>A , CM000678.2:g.9764200T>A	GRCh38
NC_000016.9:g.9858057T>A , CM000678.1:g.9858057T>A	GRCh37
NC_000016.8:g.9765558T>A	NCBI36
NG_011812.1:g.423555A>T
NG_011812.2:g.423555A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3344A>T MANE Select	ENSP00000332549.3:p.Asp1115Val
ENST00000535259.6:c.2873A>T	ENSP00000441572.3:p.Asp958Val
ENST00000636273.2:n.2937A>T
ENST00000674742.1:c.2873A>T	ENSP00000502200.1:p.Asp958Val
ENST00000675398.1:c.*714A>T	ENSP00000502752.1:n.*714A>T
ENST00000330684.3:c.3344A>T	ENSP00000332549.3:p.Asp1115Val
ENST00000396573.6:c.3344A>T	ENSP00000379818.2:p.Asp1115Val
ENST00000396575.6:c.2933A>T	ENSP00000379820.3:p.Asp978Val
ENST00000461292.3:n.2983A>T
ENST00000535259.5:c.2933A>T	ENSP00000441572.2:p.Asp978Val
ENST00000562109.5:c.3344A>T	ENSP00000454998.1:p.Asp1115Val
NM_000833.4:c.3344A>T	NP_000824.1:p.Asp1115Val
NM_001134407.2:c.3344A>T	NP_001127879.1:p.Asp1115Val
NM_001134408.2:c.3344A>T	NP_001127880.1:p.Asp1115Val
XM_011522456.1:c.3185A>T	XP_011520758.1:p.Asp1062Val
XM_011522457.1:c.3086A>T	XP_011520759.1:p.Asp1029Val
XM_011522458.1:c.2873A>T	XP_011520760.1:p.Asp958Val
XM_011522459.1:c.2873A>T	XP_011520761.1:p.Asp958Val
XM_011522460.1:c.2873A>T	XP_011520762.1:p.Asp958Val
XM_011522461.1:c.3344A>T	XP_011520763.1:p.Asp1115Val
XM_011522458.3:c.2873A>T	XP_011520760.1:p.Asp958Val
XM_011522461.3:c.3344A>T	XP_011520763.1:p.Asp1115Val
XM_017023172.1:c.3500A>T	XP_016878661.1:p.Asp1167Val
XM_017023173.1:c.3500A>T	XP_016878662.1:p.Asp1167Val
NM_001134407.3:c.3344A>T MANE Select	NP_001127879.1:p.Asp1115Val
NM_000833.5:c.3344A>T	NP_000824.1:p.Asp1115Val