Canonical Allele Identifier: CA394715168

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1427605
• ClinVar RCV Id: RCV001945960
• dbSNP Id: rs2050228811
• MyVariant Identifiers: chr16:g.10273902G>C (hg19) ; chr16:g.10180045G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180045G>C , CM000678.2:g.10180045G>C	GRCh38
NC_000016.9:g.10273902G>C , CM000678.1:g.10273902G>C	GRCh37
NC_000016.8:g.10181403G>C	NCBI36
NG_011812.1:g.7710C>G
NG_011812.2:g.7710C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.367C>G MANE Select	ENSP00000332549.3:p.Pro123Ala
ENST00000637334.1:n.46C>G
ENST00000675189.1:n.851C>G
ENST00000675398.1:c.367C>G	ENSP00000502752.1:p.Pro123Ala
ENST00000676032.1:n.800C>G
ENST00000330684.3:c.367C>G	ENSP00000332549.3:p.Pro123Ala
ENST00000396573.6:c.367C>G	ENSP00000379818.2:p.Pro123Ala
ENST00000562109.5:c.367C>G	ENSP00000454998.1:p.Pro123Ala
ENST00000566665.1:n.768C>G
NM_000833.4:c.367C>G	NP_000824.1:p.Pro123Ala
NM_001134407.2:c.367C>G	NP_001127879.1:p.Pro123Ala
NM_001134408.2:c.367C>G	NP_001127880.1:p.Pro123Ala
XM_011522461.1:c.367C>G	XP_011520763.1:p.Pro123Ala
XM_011522461.3:c.367C>G	XP_011520763.1:p.Pro123Ala
XM_017023172.1:c.523C>G	XP_016878661.1:p.Pro175Ala
XM_017023173.1:c.523C>G	XP_016878662.1:p.Pro175Ala
NM_001134407.3:c.367C>G MANE Select	NP_001127879.1:p.Pro123Ala
NM_000833.5:c.367C>G	NP_000824.1:p.Pro123Ala