Canonical Allele Identifier: CA394707879

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1983824
• ClinVar RCV Id: RCV002770468 ; RCV002800107 ; RCV003443080
• dbSNP Id: rs746900457
• gnomAD v2: 16-9857969-G-T
• gnomAD v4: 16-9764112-G-T
• MyVariant Identifiers: chr16:g.9857969G>T (hg19) ; chr16:g.9764112G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764112G>T , CM000678.2:g.9764112G>T	GRCh38
NC_000016.9:g.9857969G>T , CM000678.1:g.9857969G>T	GRCh37
NC_000016.8:g.9765470G>T	NCBI36
NG_011812.1:g.423643C>A
NG_011812.2:g.423643C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.3432C>A MANE Select	ENSP00000332549.3:p.Asn1144Lys
ENST00000535259.6:c.2961C>A	ENSP00000441572.3:p.Asn987Lys
ENST00000636273.2:n.3025C>A
ENST00000674742.1:c.2961C>A	ENSP00000502200.1:p.Asn987Lys
ENST00000675398.1:c.*802C>A	ENSP00000502752.1:n.*802C>A
ENST00000330684.3:c.3432C>A	ENSP00000332549.3:p.Asn1144Lys
ENST00000396573.6:c.3432C>A	ENSP00000379818.2:p.Asn1144Lys
ENST00000396575.6:c.3021C>A	ENSP00000379820.3:p.Asn1007Lys
ENST00000461292.3:n.3071C>A
ENST00000535259.5:c.3021C>A	ENSP00000441572.2:p.Asn1007Lys
ENST00000562109.5:c.3432C>A	ENSP00000454998.1:p.Asn1144Lys
NM_000833.4:c.3432C>A	NP_000824.1:p.Asn1144Lys
NM_001134407.2:c.3432C>A	NP_001127879.1:p.Asn1144Lys
NM_001134408.2:c.3432C>A	NP_001127880.1:p.Asn1144Lys
XM_011522456.1:c.3273C>A	XP_011520758.1:p.Asn1091Lys
XM_011522457.1:c.3174C>A	XP_011520759.1:p.Asn1058Lys
XM_011522458.1:c.2961C>A	XP_011520760.1:p.Asn987Lys
XM_011522459.1:c.2961C>A	XP_011520761.1:p.Asn987Lys
XM_011522460.1:c.2961C>A	XP_011520762.1:p.Asn987Lys
XM_011522461.1:c.3432C>A	XP_011520763.1:p.Asn1144Lys
XM_011522458.3:c.2961C>A	XP_011520760.1:p.Asn987Lys
XM_011522461.3:c.3432C>A	XP_011520763.1:p.Asn1144Lys
XM_017023172.1:c.3588C>A	XP_016878661.1:p.Asn1196Lys
XM_017023173.1:c.3588C>A	XP_016878662.1:p.Asn1196Lys
NM_001134407.3:c.3432C>A MANE Select	NP_001127879.1:p.Asn1144Lys
NM_000833.5:c.3432C>A	NP_000824.1:p.Asn1144Lys