Canonical Allele Identifier: CA7896319

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 381789
• ClinVar RCV Id: RCV000865035 ; RCV001703671 ; RCV002450987
• dbSNP Id: rs150487431
• ExAC: 16:9857975 G / A
• gnomAD v2: 16-9857975-G-A
• gnomAD v3: 16-9764118-G-A
• gnomAD v4: 16-9764118-G-A
• COSMIC: COSM3513440
• MyVariant Identifiers: chr16:g.9857975G>A (hg19) ; chr16:g.9764118G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764118G>A , CM000678.2:g.9764118G>A	GRCh38
NC_000016.9:g.9857975G>A , CM000678.1:g.9857975G>A	GRCh37
NC_000016.8:g.9765476G>A	NCBI36
NG_011812.1:g.423637C>T
NG_011812.2:g.423637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3426C>T MANE Select	ENSP00000332549.3:p.Pro1142=
ENST00000535259.6:c.2955C>T	ENSP00000441572.3:p.Pro985=
ENST00000636273.2:n.3019C>T
ENST00000674742.1:c.2955C>T	ENSP00000502200.1:p.Pro985=
ENST00000675398.1:c.*796C>T	ENSP00000502752.1:n.*796C>T
ENST00000330684.3:c.3426C>T	ENSP00000332549.3:p.Pro1142=
ENST00000396573.6:c.3426C>T	ENSP00000379818.2:p.Pro1142=
ENST00000396575.6:c.3015C>T	ENSP00000379820.3:p.Pro1005=
ENST00000461292.3:n.3065C>T
ENST00000535259.5:c.3015C>T	ENSP00000441572.2:p.Pro1005=
ENST00000562109.5:c.3426C>T	ENSP00000454998.1:p.Pro1142=
NM_000833.4:c.3426C>T	NP_000824.1:p.Pro1142=
NM_001134407.2:c.3426C>T	NP_001127879.1:p.Pro1142=
NM_001134408.2:c.3426C>T	NP_001127880.1:p.Pro1142=
XM_011522456.1:c.3267C>T	XP_011520758.1:p.Pro1089=
XM_011522457.1:c.3168C>T	XP_011520759.1:p.Pro1056=
XM_011522458.1:c.2955C>T	XP_011520760.1:p.Pro985=
XM_011522459.1:c.2955C>T	XP_011520761.1:p.Pro985=
XM_011522460.1:c.2955C>T	XP_011520762.1:p.Pro985=
XM_011522461.1:c.3426C>T	XP_011520763.1:p.Pro1142=
XM_011522458.3:c.2955C>T	XP_011520760.1:p.Pro985=
XM_011522461.3:c.3426C>T	XP_011520763.1:p.Pro1142=
XM_017023172.1:c.3582C>T	XP_016878661.1:p.Pro1194=
XM_017023173.1:c.3582C>T	XP_016878662.1:p.Pro1194=
NM_001134407.3:c.3426C>T MANE Select	NP_001127879.1:p.Pro1142=
NM_000833.5:c.3426C>T	NP_000824.1:p.Pro1142=