Canonical Allele Identifier: CA278194581

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1716567
• ClinVar RCV Id: RCV002295887
• dbSNP Id: rs899780729
• gnomAD v4: 16-9938254-G-A
• MyVariant Identifiers: chr16:g.10032111G>A (hg19) ; chr16:g.9938254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938254G>A , CM000678.2:g.9938254G>A	GRCh38
NC_000016.9:g.10032111G>A , CM000678.1:g.10032111G>A	GRCh37
NC_000016.8:g.9939612G>A	NCBI36
NG_011812.1:g.249501C>T
NG_011812.2:g.249501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.712C>T MANE Select	ENSP00000332549.3:p.Leu238Phe
ENST00000535259.6:c.241C>T	ENSP00000441572.3:p.Leu81Phe
ENST00000636273.2:n.305C>T
ENST00000637393.1:c.304C>T	ENSP00000490232.1:p.Leu102Phe
ENST00000674742.1:c.241C>T	ENSP00000502200.1:p.Leu81Phe
ENST00000675189.1:n.1196C>T
ENST00000675398.1:c.712C>T	ENSP00000502752.1:p.Leu238Phe
ENST00000330684.3:c.712C>T	ENSP00000332549.3:p.Leu238Phe
ENST00000396573.6:c.712C>T	ENSP00000379818.2:p.Leu238Phe
ENST00000396575.6:c.301C>T	ENSP00000379820.3:p.Leu101Phe
ENST00000461292.3:n.351C>T
ENST00000535259.5:c.301C>T	ENSP00000441572.2:p.Leu101Phe
ENST00000562109.5:c.712C>T	ENSP00000454998.1:p.Leu238Phe
ENST00000566670.2:n.554C>T
ENST00000566683.1:n.241-47154C>T
ENST00000568247.3:n.604C>T
NM_000833.4:c.712C>T	NP_000824.1:p.Leu238Phe
NM_001134407.2:c.712C>T	NP_001127879.1:p.Leu238Phe
NM_001134408.2:c.712C>T	NP_001127880.1:p.Leu238Phe
XM_011522456.1:c.553C>T	XP_011520758.1:p.Leu185Phe
XM_011522457.1:c.454C>T	XP_011520759.1:p.Leu152Phe
XM_011522458.1:c.241C>T	XP_011520760.1:p.Leu81Phe
XM_011522459.1:c.241C>T	XP_011520761.1:p.Leu81Phe
XM_011522460.1:c.241C>T	XP_011520762.1:p.Leu81Phe
XM_011522461.1:c.712C>T	XP_011520763.1:p.Leu238Phe
XM_011522458.3:c.241C>T	XP_011520760.1:p.Leu81Phe
XM_011522461.3:c.712C>T	XP_011520763.1:p.Leu238Phe
XM_017023172.1:c.868C>T	XP_016878661.1:p.Leu290Phe
XM_017023173.1:c.868C>T	XP_016878662.1:p.Leu290Phe
NM_001134407.3:c.712C>T MANE Select	NP_001127879.1:p.Leu238Phe
NM_000833.5:c.712C>T	NP_000824.1:p.Leu238Phe