Canonical Allele Identifier: CA493692841

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2829555
• ClinVar RCV Id: RCV003741934
• COSMIC: COSM3957948
• MyVariant Identifiers: chr16:g.9857957C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764100C>A , CM000678.2:g.9764100C>A	GRCh38
NC_000016.9:g.9857957C>A , CM000678.1:g.9857957C>A	GRCh37
NC_000016.8:g.9765458C>A	NCBI36
NG_011812.1:g.423655G>T
NG_011812.2:g.423655G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3444G>T MANE Select	ENSP00000332549.3:p.Pro1148=
ENST00000535259.6:c.2973G>T	ENSP00000441572.3:p.Pro991=
ENST00000636273.2:n.3037G>T
ENST00000674742.1:c.2973G>T	ENSP00000502200.1:p.Pro991=
ENST00000675398.1:c.*814G>T	ENSP00000502752.1:n.*814G>T
ENST00000330684.3:c.3444G>T	ENSP00000332549.3:p.Pro1148=
ENST00000396573.6:c.3444G>T	ENSP00000379818.2:p.Pro1148=
ENST00000396575.6:c.3033G>T	ENSP00000379820.3:p.Pro1011=
ENST00000461292.3:n.3083G>T
ENST00000535259.5:c.3033G>T	ENSP00000441572.2:p.Pro1011=
ENST00000562109.5:c.3444G>T	ENSP00000454998.1:p.Pro1148=
NM_000833.4:c.3444G>T	NP_000824.1:p.Pro1148=
NM_001134407.2:c.3444G>T	NP_001127879.1:p.Pro1148=
NM_001134408.2:c.3444G>T	NP_001127880.1:p.Pro1148=
XM_011522456.1:c.3285G>T	XP_011520758.1:p.Pro1095=
XM_011522457.1:c.3186G>T	XP_011520759.1:p.Pro1062=
XM_011522458.1:c.2973G>T	XP_011520760.1:p.Pro991=
XM_011522459.1:c.2973G>T	XP_011520761.1:p.Pro991=
XM_011522460.1:c.2973G>T	XP_011520762.1:p.Pro991=
XM_011522461.1:c.3444G>T	XP_011520763.1:p.Pro1148=
XM_011522458.3:c.2973G>T	XP_011520760.1:p.Pro991=
XM_011522461.3:c.3444G>T	XP_011520763.1:p.Pro1148=
XM_017023172.1:c.3600G>T	XP_016878661.1:p.Pro1200=
XM_017023173.1:c.3600G>T	XP_016878662.1:p.Pro1200=
NM_001134407.3:c.3444G>T MANE Select	NP_001127879.1:p.Pro1148=
NM_000833.5:c.3444G>T	NP_000824.1:p.Pro1148=