Canonical Allele Identifier: CA277537427

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1060351
• ClinVar RCV Id: RCV001369774
• dbSNP Id: rs1006805133
• gnomAD v4: 16-9764201-C-G
• MyVariant Identifiers: chr16:g.9858058C>G (hg19) ; chr16:g.9764201C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764201C>G , CM000678.2:g.9764201C>G	GRCh38
NC_000016.9:g.9858058C>G , CM000678.1:g.9858058C>G	GRCh37
NC_000016.8:g.9765559C>G	NCBI36
NG_011812.1:g.423554G>C
NG_011812.2:g.423554G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3343G>C MANE Select	ENSP00000332549.3:p.Asp1115His
ENST00000535259.6:c.2872G>C	ENSP00000441572.3:p.Asp958His
ENST00000636273.2:n.2936G>C
ENST00000674742.1:c.2872G>C	ENSP00000502200.1:p.Asp958His
ENST00000675398.1:c.*713G>C	ENSP00000502752.1:n.*713G>C
ENST00000330684.3:c.3343G>C	ENSP00000332549.3:p.Asp1115His
ENST00000396573.6:c.3343G>C	ENSP00000379818.2:p.Asp1115His
ENST00000396575.6:c.2932G>C	ENSP00000379820.3:p.Asp978His
ENST00000461292.3:n.2982G>C
ENST00000535259.5:c.2932G>C	ENSP00000441572.2:p.Asp978His
ENST00000562109.5:c.3343G>C	ENSP00000454998.1:p.Asp1115His
NM_000833.4:c.3343G>C	NP_000824.1:p.Asp1115His
NM_001134407.2:c.3343G>C	NP_001127879.1:p.Asp1115His
NM_001134408.2:c.3343G>C	NP_001127880.1:p.Asp1115His
XM_011522456.1:c.3184G>C	XP_011520758.1:p.Asp1062His
XM_011522457.1:c.3085G>C	XP_011520759.1:p.Asp1029His
XM_011522458.1:c.2872G>C	XP_011520760.1:p.Asp958His
XM_011522459.1:c.2872G>C	XP_011520761.1:p.Asp958His
XM_011522460.1:c.2872G>C	XP_011520762.1:p.Asp958His
XM_011522461.1:c.3343G>C	XP_011520763.1:p.Asp1115His
XM_011522458.3:c.2872G>C	XP_011520760.1:p.Asp958His
XM_011522461.3:c.3343G>C	XP_011520763.1:p.Asp1115His
XM_017023172.1:c.3499G>C	XP_016878661.1:p.Asp1167His
XM_017023173.1:c.3499G>C	XP_016878662.1:p.Asp1167His
NM_001134407.3:c.3343G>C MANE Select	NP_001127879.1:p.Asp1115His
NM_000833.5:c.3343G>C	NP_000824.1:p.Asp1115His