Canonical Allele Identifier: CA2697555659

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2701247
• ClinVar RCV Id: RCV003582243

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938162del , CM000678.2:g.9938162del	GRCh38
NC_000016.9:g.10032019del , CM000678.1:g.10032019del	GRCh37
NC_000016.8:g.9939520del	NCBI36
NG_011812.1:g.249595del
NG_011812.2:g.249595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.806del MANE Select	ENSP00000332549.3:p.Pro269GlnfsTer24
ENST00000535259.6:c.335del	ENSP00000441572.3:p.Pro112GlnfsTer24
ENST00000636273.2:n.399del
ENST00000637393.1:c.398del	ENSP00000490232.1:p.Pro133GlnfsTer24
ENST00000674742.1:c.335del	ENSP00000502200.1:p.Pro112GlnfsTer24
ENST00000675189.1:n.1290del
ENST00000675398.1:c.806del	ENSP00000502752.1:p.Pro269GlnfsTer24
ENST00000330684.3:c.806del	ENSP00000332549.3:p.Pro269GlnfsTer24
ENST00000396573.6:c.806del	ENSP00000379818.2:p.Pro269GlnfsTer24
ENST00000396575.6:c.395del	ENSP00000379820.3:p.Pro132GlnfsTer24
ENST00000461292.3:n.445del
ENST00000535259.5:c.395del	ENSP00000441572.2:p.Pro132GlnfsTer24
ENST00000562109.5:c.806del	ENSP00000454998.1:p.Pro269GlnfsTer24
ENST00000566670.2:n.648del
ENST00000566683.1:n.241-47060del
ENST00000568247.3:n.698del
NM_000833.4:c.806del	NP_000824.1:p.Pro269GlnfsTer24
NM_001134407.2:c.806del	NP_001127879.1:p.Pro269GlnfsTer24
NM_001134408.2:c.806del	NP_001127880.1:p.Pro269GlnfsTer24
XM_011522456.1:c.647del	XP_011520758.1:p.Pro216GlnfsTer24
XM_011522457.1:c.548del	XP_011520759.1:p.Pro183GlnfsTer24
XM_011522458.1:c.335del	XP_011520760.1:p.Pro112GlnfsTer24
XM_011522459.1:c.335del	XP_011520761.1:p.Pro112GlnfsTer24
XM_011522460.1:c.335del	XP_011520762.1:p.Pro112GlnfsTer24
XM_011522461.1:c.806del	XP_011520763.1:p.Pro269GlnfsTer24
XM_011522458.3:c.335del	XP_011520760.1:p.Pro112GlnfsTer24
XM_011522461.3:c.806del	XP_011520763.1:p.Pro269GlnfsTer24
XM_017023172.1:c.962del	XP_016878661.1:p.Pro321GlnfsTer24
XM_017023173.1:c.962del	XP_016878662.1:p.Pro321GlnfsTer24
NM_001134407.3:c.806del MANE Select	NP_001127879.1:p.Pro269GlnfsTer24
NM_000833.5:c.806del	NP_000824.1:p.Pro269GlnfsTer24