Canonical Allele Identifier: CA394706082

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 3102471
• ClinVar RCV Id: RCV004393880
• dbSNP Id: rs1443062815
• gnomAD v2: 16-9857293-A-G
• gnomAD v3: 16-9763436-A-G
• gnomAD v4: 16-9763436-A-G
• MyVariant Identifiers: chr16:g.9857293A>G (hg19) ; chr16:g.9763436A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763436A>G , CM000678.2:g.9763436A>G	GRCh38
NC_000016.9:g.9857293A>G , CM000678.1:g.9857293A>G	GRCh37
NC_000016.8:g.9764794A>G	NCBI36
NG_011812.1:g.424319T>C
NG_011812.2:g.424319T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4108T>C MANE Select	ENSP00000332549.3:p.Ser1370Pro
ENST00000535259.6:c.3302-8T>C	ENSP00000441572.3:n.3302-8T>C
ENST00000636273.2:n.3366-8T>C
ENST00000674742.1:c.3637T>C	ENSP00000502200.1:p.Ser1213Pro
ENST00000675398.1:c.*1478T>C	ENSP00000502752.1:n.*1478T>C
ENST00000330684.3:c.4108T>C	ENSP00000332549.3:p.Ser1370Pro
ENST00000396573.6:c.4108T>C	ENSP00000379818.2:p.Ser1370Pro
ENST00000396575.6:c.3697T>C	ENSP00000379820.3:p.Ser1233Pro
ENST00000461292.3:n.3412-8T>C
ENST00000535259.5:c.3362-8T>C	ENSP00000441572.2:n.3362-8T>C
ENST00000562109.5:c.3773-8T>C	ENSP00000454998.1:n.3773-8T>C
NM_000833.4:c.4108T>C	NP_000824.1:p.Ser1370Pro
NM_001134407.2:c.4108T>C	NP_001127879.1:p.Ser1370Pro
NM_001134408.2:c.3773-8T>C	NP_001127880.1:n.3773-8T>C
XM_011522456.1:c.3949T>C	XP_011520758.1:p.Ser1317Pro
XM_011522457.1:c.3850T>C	XP_011520759.1:p.Ser1284Pro
XM_011522458.1:c.3637T>C	XP_011520760.1:p.Ser1213Pro
XM_011522459.1:c.3637T>C	XP_011520761.1:p.Ser1213Pro
XM_011522460.1:c.3637T>C	XP_011520762.1:p.Ser1213Pro
XM_011522461.1:c.3773-8T>C	XP_011520763.1:n.3773-8T>C
XM_011522458.3:c.3637T>C	XP_011520760.1:p.Ser1213Pro
XM_011522461.3:c.3773-8T>C	XP_011520763.1:n.3773-8T>C
XM_017023172.1:c.4264T>C	XP_016878661.1:p.Ser1422Pro
XM_017023173.1:c.3929-8T>C	XP_016878662.1:n.3929-8T>C
NM_001134407.3:c.4108T>C MANE Select	NP_001127879.1:p.Ser1370Pro
NM_000833.5:c.4108T>C	NP_000824.1:p.Ser1370Pro