Canonical Allele Identifier: CA7896996

Gene: GRIN2A

Linked Data

• dbSNP Id: rs540018457
• ExAC: 16:10273869 T / C
• gnomAD v2: 16-10273869-T-C
• gnomAD v3: 16-10180012-T-C
• gnomAD v4: 16-10180012-T-C
• MyVariant Identifiers: chr16:g.10273869T>C (hg19) ; chr16:g.10180012T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180012T>C , CM000678.2:g.10180012T>C	GRCh38
NC_000016.9:g.10273869T>C , CM000678.1:g.10273869T>C	GRCh37
NC_000016.8:g.10181370T>C	NCBI36
NG_011812.1:g.7743A>G
NG_011812.2:g.7743A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.400A>G MANE Select	ENSP00000332549.3:p.Ile134Val
ENST00000637334.1:n.79A>G
ENST00000675189.1:n.884A>G
ENST00000675398.1:c.400A>G	ENSP00000502752.1:p.Ile134Val
ENST00000676032.1:n.833A>G
ENST00000330684.3:c.400A>G	ENSP00000332549.3:p.Ile134Val
ENST00000396573.6:c.400A>G	ENSP00000379818.2:p.Ile134Val
ENST00000562109.5:c.400A>G	ENSP00000454998.1:p.Ile134Val
ENST00000566665.1:n.801A>G
NM_000833.4:c.400A>G	NP_000824.1:p.Ile134Val
NM_001134407.2:c.400A>G	NP_001127879.1:p.Ile134Val
NM_001134408.2:c.400A>G	NP_001127880.1:p.Ile134Val
XM_011522461.1:c.400A>G	XP_011520763.1:p.Ile134Val
XM_011522461.3:c.400A>G	XP_011520763.1:p.Ile134Val
XM_017023172.1:c.556A>G	XP_016878661.1:p.Ile186Val
XM_017023173.1:c.556A>G	XP_016878662.1:p.Ile186Val
NM_001134407.3:c.400A>G MANE Select	NP_001127879.1:p.Ile134Val
NM_000833.5:c.400A>G	NP_000824.1:p.Ile134Val