Canonical Allele Identifier: CA394705582

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1038765
• ClinVar RCV Id: RCV001342113
• dbSNP Id: rs377712891
• gnomAD v3: 16-9763297-C-A
• gnomAD v4: 16-9763297-C-A
• MyVariant Identifiers: chr16:g.9857154C>A (hg19) ; chr16:g.9763297C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763297C>A , CM000678.2:g.9763297C>A	GRCh38
NC_000016.9:g.9857154C>A , CM000678.1:g.9857154C>A	GRCh37
NC_000016.8:g.9764655C>A	NCBI36
NG_011812.1:g.424458G>T
NG_011812.2:g.424458G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4247G>T MANE Select	ENSP00000332549.3:p.Ser1416Ile
ENST00000535259.6:c.*58G>T	ENSP00000441572.3:n.*58G>T
ENST00000636273.2:n.3497G>T
ENST00000674742.1:c.3776G>T	ENSP00000502200.1:p.Ser1259Ile
ENST00000675398.1:c.*1617G>T	ENSP00000502752.1:n.*1617G>T
ENST00000330684.3:c.4247G>T	ENSP00000332549.3:p.Ser1416Ile
ENST00000396573.6:c.4247G>T	ENSP00000379818.2:p.Ser1416Ile
ENST00000396575.6:c.3836G>T	ENSP00000379820.3:p.Ser1279Ile
ENST00000461292.3:n.3543G>T
ENST00000535259.5:c.*58G>T	ENSP00000441572.2:n.*58G>T
ENST00000562109.5:c.*58G>T	ENSP00000454998.1:n.*58G>T
NM_000833.4:c.4247G>T	NP_000824.1:p.Ser1416Ile
NM_001134407.2:c.4247G>T	NP_001127879.1:p.Ser1416Ile
NM_001134408.2:c.*58G>T	NP_001127880.1:n.*58G>T
XM_011522456.1:c.4088G>T	XP_011520758.1:p.Ser1363Ile
XM_011522457.1:c.3989G>T	XP_011520759.1:p.Ser1330Ile
XM_011522458.1:c.3776G>T	XP_011520760.1:p.Ser1259Ile
XM_011522459.1:c.3776G>T	XP_011520761.1:p.Ser1259Ile
XM_011522460.1:c.3776G>T	XP_011520762.1:p.Ser1259Ile
XM_011522461.1:c.*58G>T	XP_011520763.1:n.*58G>T
XM_011522458.3:c.3776G>T	XP_011520760.1:p.Ser1259Ile
XM_011522461.3:c.*58G>T	XP_011520763.1:n.*58G>T
XM_017023172.1:c.4403G>T	XP_016878661.1:p.Ser1468Ile
XM_017023173.1:c.*58G>T	XP_016878662.1:n.*58G>T
NM_001134407.3:c.4247G>T MANE Select	NP_001127879.1:p.Ser1416Ile
NM_000833.5:c.4247G>T	NP_000824.1:p.Ser1416Ile