Canonical Allele Identifier: CA7897046

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 317669
• ClinVar RCV Id: RCV000274951
• dbSNP Id: rs146839931
• ExAC: 16:10274186 T / G
• gnomAD v2: 16-10274186-T-G
• gnomAD v3: 16-10180329-T-G
• gnomAD v4: 16-10180329-T-G
• MyVariant Identifiers: chr16:g.10274186T>G (hg19) ; chr16:g.10180329T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180329T>G , CM000678.2:g.10180329T>G	GRCh38
NC_000016.9:g.10274186T>G , CM000678.1:g.10274186T>G	GRCh37
NC_000016.8:g.10181687T>G	NCBI36
NG_011812.1:g.7426A>C
NG_011812.2:g.7426A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.83A>C MANE Select	ENSP00000332549.3:p.Glu28Ala
ENST00000675189.1:n.567A>C
ENST00000675398.1:c.83A>C	ENSP00000502752.1:p.Glu28Ala
ENST00000676032.1:n.516A>C
ENST00000330684.3:c.83A>C	ENSP00000332549.3:p.Glu28Ala
ENST00000396573.6:c.83A>C	ENSP00000379818.2:p.Glu28Ala
ENST00000562109.5:c.83A>C	ENSP00000454998.1:p.Glu28Ala
ENST00000566665.1:n.484A>C
NM_000833.4:c.83A>C	NP_000824.1:p.Glu28Ala
NM_001134407.2:c.83A>C	NP_001127879.1:p.Glu28Ala
NM_001134408.2:c.83A>C	NP_001127880.1:p.Glu28Ala
XM_011522461.1:c.83A>C	XP_011520763.1:p.Glu28Ala
XM_011522461.3:c.83A>C	XP_011520763.1:p.Glu28Ala
XM_017023172.1:c.239A>C	XP_016878661.1:p.Glu80Ala
XM_017023173.1:c.239A>C	XP_016878662.1:p.Glu80Ala
NM_001134407.3:c.83A>C MANE Select	NP_001127879.1:p.Glu28Ala
NM_000833.5:c.83A>C	NP_000824.1:p.Glu28Ala