Canonical Allele Identifier: CA277536351

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2919391
• ClinVar RCV Id: RCV003741112
• dbSNP Id: rs368066766
• gnomAD v3: 16-9763566-G-A
• gnomAD v4: 16-9763566-G-A
• MyVariant Identifiers: chr16:g.9857423G>A (hg19) ; chr16:g.9763566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763566G>A , CM000678.2:g.9763566G>A	GRCh38
NC_000016.9:g.9857423G>A , CM000678.1:g.9857423G>A	GRCh37
NC_000016.8:g.9764924G>A	NCBI36
NG_011812.1:g.424189C>T
NG_011812.2:g.424189C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3978C>T MANE Select	ENSP00000332549.3:p.Gly1326=
ENST00000535259.6:c.3302-138C>T	ENSP00000441572.3:n.3302-138C>T
ENST00000636273.2:n.3366-138C>T
ENST00000674742.1:c.3507C>T	ENSP00000502200.1:p.Gly1169=
ENST00000675398.1:c.*1348C>T	ENSP00000502752.1:n.*1348C>T
ENST00000330684.3:c.3978C>T	ENSP00000332549.3:p.Gly1326=
ENST00000396573.6:c.3978C>T	ENSP00000379818.2:p.Gly1326=
ENST00000396575.6:c.3567C>T	ENSP00000379820.3:p.Gly1189=
ENST00000461292.3:n.3412-138C>T
ENST00000535259.5:c.3362-138C>T	ENSP00000441572.2:n.3362-138C>T
ENST00000562109.5:c.3773-138C>T	ENSP00000454998.1:n.3773-138C>T
NM_000833.4:c.3978C>T	NP_000824.1:p.Gly1326=
NM_001134407.2:c.3978C>T	NP_001127879.1:p.Gly1326=
NM_001134408.2:c.3773-138C>T	NP_001127880.1:n.3773-138C>T
XM_011522456.1:c.3819C>T	XP_011520758.1:p.Gly1273=
XM_011522457.1:c.3720C>T	XP_011520759.1:p.Gly1240=
XM_011522458.1:c.3507C>T	XP_011520760.1:p.Gly1169=
XM_011522459.1:c.3507C>T	XP_011520761.1:p.Gly1169=
XM_011522460.1:c.3507C>T	XP_011520762.1:p.Gly1169=
XM_011522461.1:c.3773-138C>T	XP_011520763.1:n.3773-138C>T
XM_011522458.3:c.3507C>T	XP_011520760.1:p.Gly1169=
XM_011522461.3:c.3773-138C>T	XP_011520763.1:n.3773-138C>T
XM_017023172.1:c.4134C>T	XP_016878661.1:p.Gly1378=
XM_017023173.1:c.3929-138C>T	XP_016878662.1:n.3929-138C>T
NM_001134407.3:c.3978C>T MANE Select	NP_001127879.1:p.Gly1326=
NM_000833.5:c.3978C>T	NP_000824.1:p.Gly1326=