Canonical Allele Identifier: CA7896315

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1062536
• ClinVar RCV Id: RCV001372265
• dbSNP Id: rs140536516
• ExAC: 16:9857958 G / A
• gnomAD v2: 16-9857958-G-A
• gnomAD v4: 16-9764101-G-A
• MyVariant Identifiers: chr16:g.9857958G>A (hg19) ; chr16:g.9764101G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764101G>A , CM000678.2:g.9764101G>A	GRCh38
NC_000016.9:g.9857958G>A , CM000678.1:g.9857958G>A	GRCh37
NC_000016.8:g.9765459G>A	NCBI36
NG_011812.1:g.423654C>T
NG_011812.2:g.423654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3443C>T MANE Select	ENSP00000332549.3:p.Pro1148Leu
ENST00000535259.6:c.2972C>T	ENSP00000441572.3:p.Pro991Leu
ENST00000636273.2:n.3036C>T
ENST00000674742.1:c.2972C>T	ENSP00000502200.1:p.Pro991Leu
ENST00000675398.1:c.*813C>T	ENSP00000502752.1:n.*813C>T
ENST00000330684.3:c.3443C>T	ENSP00000332549.3:p.Pro1148Leu
ENST00000396573.6:c.3443C>T	ENSP00000379818.2:p.Pro1148Leu
ENST00000396575.6:c.3032C>T	ENSP00000379820.3:p.Pro1011Leu
ENST00000461292.3:n.3082C>T
ENST00000535259.5:c.3032C>T	ENSP00000441572.2:p.Pro1011Leu
ENST00000562109.5:c.3443C>T	ENSP00000454998.1:p.Pro1148Leu
NM_000833.4:c.3443C>T	NP_000824.1:p.Pro1148Leu
NM_001134407.2:c.3443C>T	NP_001127879.1:p.Pro1148Leu
NM_001134408.2:c.3443C>T	NP_001127880.1:p.Pro1148Leu
XM_011522456.1:c.3284C>T	XP_011520758.1:p.Pro1095Leu
XM_011522457.1:c.3185C>T	XP_011520759.1:p.Pro1062Leu
XM_011522458.1:c.2972C>T	XP_011520760.1:p.Pro991Leu
XM_011522459.1:c.2972C>T	XP_011520761.1:p.Pro991Leu
XM_011522460.1:c.2972C>T	XP_011520762.1:p.Pro991Leu
XM_011522461.1:c.3443C>T	XP_011520763.1:p.Pro1148Leu
XM_011522458.3:c.2972C>T	XP_011520760.1:p.Pro991Leu
XM_011522461.3:c.3443C>T	XP_011520763.1:p.Pro1148Leu
XM_017023172.1:c.3599C>T	XP_016878661.1:p.Pro1200Leu
XM_017023173.1:c.3599C>T	XP_016878662.1:p.Pro1200Leu
NM_001134407.3:c.3443C>T MANE Select	NP_001127879.1:p.Pro1148Leu
NM_000833.5:c.3443C>T	NP_000824.1:p.Pro1148Leu