Canonical Allele Identifier: CA7896876

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2194942
• ClinVar RCV Id: RCV002647548
• dbSNP Id: rs748601438
• ExAC: 16:10031897 T / C
• gnomAD v2: 16-10031897-T-C
• gnomAD v4: 16-9938040-T-C
• MyVariant Identifiers: chr16:g.10031897T>C (hg19) ; chr16:g.9938040T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938040T>C , CM000678.2:g.9938040T>C	GRCh38
NC_000016.9:g.10031897T>C , CM000678.1:g.10031897T>C	GRCh37
NC_000016.8:g.9939398T>C	NCBI36
NG_011812.1:g.249715A>G
NG_011812.2:g.249715A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.926A>G MANE Select	ENSP00000332549.3:p.Lys309Arg
ENST00000535259.6:c.455A>G	ENSP00000441572.3:p.Lys152Arg
ENST00000636273.2:n.519A>G
ENST00000637393.1:c.518A>G	ENSP00000490232.1:p.Lys173Arg
ENST00000674742.1:c.455A>G	ENSP00000502200.1:p.Lys152Arg
ENST00000675189.1:n.1410A>G
ENST00000675398.1:c.926A>G	ENSP00000502752.1:p.Lys309Arg
ENST00000330684.3:c.926A>G	ENSP00000332549.3:p.Lys309Arg
ENST00000396573.6:c.926A>G	ENSP00000379818.2:p.Lys309Arg
ENST00000396575.6:c.515A>G	ENSP00000379820.3:p.Lys172Arg
ENST00000461292.3:n.565A>G
ENST00000535259.5:c.515A>G	ENSP00000441572.2:p.Lys172Arg
ENST00000562109.5:c.926A>G	ENSP00000454998.1:p.Lys309Arg
ENST00000566683.1:n.241-46940A>G
ENST00000568247.3:n.818A>G
NM_000833.4:c.926A>G	NP_000824.1:p.Lys309Arg
NM_001134407.2:c.926A>G	NP_001127879.1:p.Lys309Arg
NM_001134408.2:c.926A>G	NP_001127880.1:p.Lys309Arg
XM_011522456.1:c.767A>G	XP_011520758.1:p.Lys256Arg
XM_011522457.1:c.668A>G	XP_011520759.1:p.Lys223Arg
XM_011522458.1:c.455A>G	XP_011520760.1:p.Lys152Arg
XM_011522459.1:c.455A>G	XP_011520761.1:p.Lys152Arg
XM_011522460.1:c.455A>G	XP_011520762.1:p.Lys152Arg
XM_011522461.1:c.926A>G	XP_011520763.1:p.Lys309Arg
XM_011522458.3:c.455A>G	XP_011520760.1:p.Lys152Arg
XM_011522461.3:c.926A>G	XP_011520763.1:p.Lys309Arg
XM_017023172.1:c.1082A>G	XP_016878661.1:p.Lys361Arg
XM_017023173.1:c.1082A>G	XP_016878662.1:p.Lys361Arg
NM_001134407.3:c.926A>G MANE Select	NP_001127879.1:p.Lys309Arg
NM_000833.5:c.926A>G	NP_000824.1:p.Lys309Arg