Canonical Allele Identifier: CA394715923

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2576366
• ClinVar RCV Id: RCV003322425
• MyVariant Identifiers: chr16:g.10274268T>A (hg19) ; chr16:g.10180411T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180411T>A , CM000678.2:g.10180411T>A	GRCh38
NC_000016.9:g.10274268T>A , CM000678.1:g.10274268T>A	GRCh37
NC_000016.8:g.10181769T>A	NCBI36
NG_011812.1:g.7344A>T
NG_011812.2:g.7344A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.1A>T MANE Select	ENSP00000332549.3:p.Met1Leu
ENST00000636406.1:c.1A>T	ENSP00000490676.1:p.Met1Leu
ENST00000637188.1:c.1A>T	ENSP00000489946.1:p.Met1Leu
ENST00000675189.1:n.485A>T
ENST00000675398.1:c.1A>T	ENSP00000502752.1:p.Met1Leu
ENST00000676032.1:n.434A>T
ENST00000330684.3:c.1A>T	ENSP00000332549.3:p.Met1Leu
ENST00000396573.6:c.1A>T	ENSP00000379818.2:p.Met1Leu
ENST00000562109.5:c.1A>T	ENSP00000454998.1:p.Met1Leu
ENST00000566665.1:n.402A>T
NM_000833.4:c.1A>T	NP_000824.1:p.Met1Leu
NM_001134407.2:c.1A>T	NP_001127879.1:p.Met1Leu
NM_001134408.2:c.1A>T	NP_001127880.1:p.Met1Leu
XM_011522461.1:c.1A>T	XP_011520763.1:p.Met1Leu
XM_011522461.3:c.1A>T	XP_011520763.1:p.Met1Leu
XM_017023172.1:c.157A>T	XP_016878661.1:p.Met53Leu
XM_017023173.1:c.157A>T	XP_016878662.1:p.Met53Leu
NM_001134407.3:c.1A>T MANE Select	NP_001127879.1:p.Met1Leu
NM_000833.5:c.1A>T	NP_000824.1:p.Met1Leu