Canonical Allele Identifier: CA394799352

Gene: GRIN2A

Linked Data

• gnomAD v4: 16-9829496-T-C
• COSMIC: COSM5754964
• MyVariant Identifiers: chr16:g.9923353T>C (hg19) ; chr16:g.9829496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9829496T>C , CM000678.2:g.9829496T>C	GRCh38
NC_000016.9:g.9923353T>C , CM000678.1:g.9923353T>C	GRCh37
NC_000016.8:g.9830854T>C	NCBI36
NG_011812.1:g.358259A>G
NG_011812.2:g.358259A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.1934A>G MANE Select	ENSP00000332549.3:p.Tyr645Cys
ENST00000535259.6:c.1463A>G	ENSP00000441572.3:p.Tyr488Cys
ENST00000636273.2:n.1527A>G
ENST00000674742.1:c.1463A>G	ENSP00000502200.1:p.Tyr488Cys
ENST00000675398.1:c.1934A>G	ENSP00000502752.1:p.Tyr645Cys
ENST00000330684.3:c.1934A>G	ENSP00000332549.3:p.Tyr645Cys
ENST00000396573.6:c.1934A>G	ENSP00000379818.2:p.Tyr645Cys
ENST00000396575.6:c.1523A>G	ENSP00000379820.3:p.Tyr508Cys
ENST00000461292.3:n.1573A>G
ENST00000535259.5:c.1523A>G	ENSP00000441572.2:p.Tyr508Cys
ENST00000562109.5:c.1934A>G	ENSP00000454998.1:p.Tyr645Cys
NM_000833.4:c.1934A>G	NP_000824.1:p.Tyr645Cys
NM_001134407.2:c.1934A>G	NP_001127879.1:p.Tyr645Cys
NM_001134408.2:c.1934A>G	NP_001127880.1:p.Tyr645Cys
XM_011522456.1:c.1775A>G	XP_011520758.1:p.Tyr592Cys
XM_011522457.1:c.1676A>G	XP_011520759.1:p.Tyr559Cys
XM_011522458.1:c.1463A>G	XP_011520760.1:p.Tyr488Cys
XM_011522459.1:c.1463A>G	XP_011520761.1:p.Tyr488Cys
XM_011522460.1:c.1463A>G	XP_011520762.1:p.Tyr488Cys
XM_011522461.1:c.1934A>G	XP_011520763.1:p.Tyr645Cys
XM_011522458.3:c.1463A>G	XP_011520760.1:p.Tyr488Cys
XM_011522461.3:c.1934A>G	XP_011520763.1:p.Tyr645Cys
XM_017023172.1:c.2090A>G	XP_016878661.1:p.Tyr697Cys
XM_017023173.1:c.2090A>G	XP_016878662.1:p.Tyr697Cys
NM_001134407.3:c.1934A>G MANE Select	NP_001127879.1:p.Tyr645Cys
NM_000833.5:c.1934A>G	NP_000824.1:p.Tyr645Cys