Canonical Allele Identifier: CA2740092332

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 3062093
• ClinVar RCV Id: RCV003985203

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615656_13615659del , CM000674.2:g.13615656_13615659del	GRCh38
NC_000012.11:g.13768590_13768593del , CM000674.1:g.13768590_13768593del	GRCh37
NC_000012.10:g.13659857_13659860del	NCBI36
NG_031854.1:g.369431_369434del
NG_031854.2:g.371355_371358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1335_1338del MANE Select	ENSP00000477455.1:p.Asp447ArgfsTer25
ENST00000630791.2:c.1335_1338del	ENSP00000486677.2:p.Asp447ArgfsTer?
ENST00000609686.3:c.1335_1338del	ENSP00000477455.1:p.Asp447ArgfsTer25
NM_000834.3:c.1335_1338del	NP_000825.2:p.Asp447ArgfsTer25
XM_011520628.1:c.1335_1338del	XP_011518930.1:p.Asp447ArgfsTer25
XM_011520629.1:c.1335_1338del	XP_011518931.1:p.Asp447ArgfsTer25
XM_011520630.1:c.1335_1338del	XP_011518932.1:p.Asp447ArgfsTer25
XR_931372.1:n.307+430_307+433del
XR_931373.1:n.447+430_447+433del
XR_931374.1:n.246+430_246+433del
NM_000834.4:c.1335_1338del	NP_000825.2:p.Asp447ArgfsTer25
XM_011520628.2:c.1335_1338del	XP_011518930.1:p.Asp447ArgfsTer25
XM_011520629.2:c.1335_1338del	XP_011518931.1:p.Asp447ArgfsTer25
XM_017019219.2:c.1335_1338del	XP_016874708.1:p.Asp447ArgfsTer25
XR_001749013.1:n.728+430_728+433del
XR_931372.2:n.444+430_444+433del
XR_931373.2:n.586+430_586+433del
NM_000834.5:c.1335_1338del MANE Select	NP_000825.2:p.Asp447ArgfsTer25