Canonical Allele Identifier: CA16607580

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 388190
• ClinVar RCV Id: RCV000438843 ; RCV001118446
• dbSNP Id: rs1057523027
• gnomAD v2: 16-9916240-C-G
• gnomAD v4: 16-9822383-C-G
• MyVariant Identifiers: chr16:g.9916240C>G (hg19) ; chr16:g.9822383C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9822383C>G , CM000678.2:g.9822383C>G	GRCh38
NC_000016.9:g.9916240C>G , CM000678.1:g.9916240C>G	GRCh37
NC_000016.8:g.9823741C>G	NCBI36
NG_011812.1:g.365372G>C
NG_011812.2:g.365372G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2049G>C MANE Select	ENSP00000332549.3:p.Gly683=
ENST00000535259.6:c.1578G>C	ENSP00000441572.3:p.Gly526=
ENST00000636273.2:n.1642G>C
ENST00000674742.1:c.1578G>C	ENSP00000502200.1:p.Gly526=
ENST00000675398.1:c.2049G>C	ENSP00000502752.1:p.Gly683=
ENST00000330684.3:c.2049G>C	ENSP00000332549.3:p.Gly683=
ENST00000396573.6:c.2049G>C	ENSP00000379818.2:p.Gly683=
ENST00000396575.6:c.1638G>C	ENSP00000379820.3:p.Gly546=
ENST00000461292.3:n.1688G>C
ENST00000535259.5:c.1638G>C	ENSP00000441572.2:p.Gly546=
ENST00000562109.5:c.2049G>C	ENSP00000454998.1:p.Gly683=
NM_000833.4:c.2049G>C	NP_000824.1:p.Gly683=
NM_001134407.2:c.2049G>C	NP_001127879.1:p.Gly683=
NM_001134408.2:c.2049G>C	NP_001127880.1:p.Gly683=
XM_011522456.1:c.1890G>C	XP_011520758.1:p.Gly630=
XM_011522457.1:c.1791G>C	XP_011520759.1:p.Gly597=
XM_011522458.1:c.1578G>C	XP_011520760.1:p.Gly526=
XM_011522459.1:c.1578G>C	XP_011520761.1:p.Gly526=
XM_011522460.1:c.1578G>C	XP_011520762.1:p.Gly526=
XM_011522461.1:c.2049G>C	XP_011520763.1:p.Gly683=
XM_011522458.3:c.1578G>C	XP_011520760.1:p.Gly526=
XM_011522461.3:c.2049G>C	XP_011520763.1:p.Gly683=
XM_017023172.1:c.2205G>C	XP_016878661.1:p.Gly735=
XM_017023173.1:c.2205G>C	XP_016878662.1:p.Gly735=
NM_001134407.3:c.2049G>C MANE Select	NP_001127879.1:p.Gly683=
NM_000833.5:c.2049G>C	NP_000824.1:p.Gly683=