Canonical Allele Identifier: CA394709383

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1801120
• ClinVar RCV Id: RCV002462717
• MyVariant Identifiers: chr16:g.9858627A>T (hg19) ; chr16:g.9764770A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764770A>T , CM000678.2:g.9764770A>T	GRCh38
NC_000016.9:g.9858627A>T , CM000678.1:g.9858627A>T	GRCh37
NC_000016.8:g.9766128A>T	NCBI36
NG_011812.1:g.422985T>A
NG_011812.2:g.422985T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2774T>A MANE Select	ENSP00000332549.3:p.Ile925Asn
ENST00000535259.6:c.2303T>A	ENSP00000441572.3:p.Ile768Asn
ENST00000636273.2:n.2367T>A
ENST00000674742.1:c.2303T>A	ENSP00000502200.1:p.Ile768Asn
ENST00000675398.1:c.*144T>A	ENSP00000502752.1:n.*144T>A
ENST00000330684.3:c.2774T>A	ENSP00000332549.3:p.Ile925Asn
ENST00000396573.6:c.2774T>A	ENSP00000379818.2:p.Ile925Asn
ENST00000396575.6:c.2363T>A	ENSP00000379820.3:p.Ile788Asn
ENST00000461292.3:n.2413T>A
ENST00000535259.5:c.2363T>A	ENSP00000441572.2:p.Ile788Asn
ENST00000562109.5:c.2774T>A	ENSP00000454998.1:p.Ile925Asn
NM_000833.4:c.2774T>A	NP_000824.1:p.Ile925Asn
NM_001134407.2:c.2774T>A	NP_001127879.1:p.Ile925Asn
NM_001134408.2:c.2774T>A	NP_001127880.1:p.Ile925Asn
XM_011522456.1:c.2615T>A	XP_011520758.1:p.Ile872Asn
XM_011522457.1:c.2516T>A	XP_011520759.1:p.Ile839Asn
XM_011522458.1:c.2303T>A	XP_011520760.1:p.Ile768Asn
XM_011522459.1:c.2303T>A	XP_011520761.1:p.Ile768Asn
XM_011522460.1:c.2303T>A	XP_011520762.1:p.Ile768Asn
XM_011522461.1:c.2774T>A	XP_011520763.1:p.Ile925Asn
XM_011522458.3:c.2303T>A	XP_011520760.1:p.Ile768Asn
XM_011522461.3:c.2774T>A	XP_011520763.1:p.Ile925Asn
XM_017023172.1:c.2930T>A	XP_016878661.1:p.Ile977Asn
XM_017023173.1:c.2930T>A	XP_016878662.1:p.Ile977Asn
NM_001134407.3:c.2774T>A MANE Select	NP_001127879.1:p.Ile925Asn
NM_000833.5:c.2774T>A	NP_000824.1:p.Ile925Asn