Canonical Allele Identifier: CA2573054130

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1325705
• ClinVar RCV Id: RCV001785242
• dbSNP Id: rs2142390867

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180322dup , CM000678.2:g.10180322dup	GRCh38
NC_000016.9:g.10274179dup , CM000678.1:g.10274179dup	GRCh37
NC_000016.8:g.10181680dup	NCBI36
NG_011812.1:g.7433dup
NG_011812.2:g.7433dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.90dup MANE Select	ENSP00000332549.3:p.Pro31SerfsTer?
ENST00000675189.1:n.574dup
ENST00000675398.1:c.90dup	ENSP00000502752.1:p.Pro31SerfsTer?
ENST00000676032.1:n.523dup
ENST00000330684.3:c.90dup	ENSP00000332549.3:p.Pro31SerfsTer?
ENST00000396573.6:c.90dup	ENSP00000379818.2:p.Pro31SerfsTer?
ENST00000562109.5:c.90dup	ENSP00000454998.1:p.Pro31SerfsTer?
ENST00000566665.1:n.491dup
NM_000833.4:c.90dup	NP_000824.1:p.Pro31SerfsTer?
NM_001134407.2:c.90dup	NP_001127879.1:p.Pro31SerfsTer?
NM_001134408.2:c.90dup	NP_001127880.1:p.Pro31SerfsTer?
XM_011522461.1:c.90dup	XP_011520763.1:p.Pro31SerfsTer?
XM_011522461.3:c.90dup	XP_011520763.1:p.Pro31SerfsTer?
XM_017023172.1:c.246dup	XP_016878661.1:p.Pro83SerfsTer?
XM_017023173.1:c.246dup	XP_016878662.1:p.Pro83SerfsTer?
NM_001134407.3:c.90dup MANE Select	NP_001127879.1:p.Pro31SerfsTer?
NM_000833.5:c.90dup	NP_000824.1:p.Pro31SerfsTer?