Canonical Allele Identifier: CA1139662530

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 916029
• ClinVar RCV Id: RCV001171511
• dbSNP Id: rs1949426932

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615552_13615559del , CM000674.2:g.13615552_13615559del	GRCh38
NC_000012.11:g.13768486_13768493del , CM000674.1:g.13768486_13768493del	GRCh37
NC_000012.10:g.13659753_13659760del	NCBI36
NG_031854.1:g.369535_369542del
NG_031854.2:g.371459_371466del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1439_1446del MANE Select	ENSP00000477455.1:p.Leu480GlnfsTer?
ENST00000609686.3:c.1439_1446del	ENSP00000477455.1:p.Leu480GlnfsTer?
NM_000834.3:c.1439_1446del	NP_000825.2:p.Leu480GlnfsTer?
XM_011520628.1:c.1439_1446del	XP_011518930.1:p.Leu480GlnfsTer?
XM_011520629.1:c.1439_1446del	XP_011518931.1:p.Leu480GlnfsTer?
XM_011520630.1:c.1439_1446del	XP_011518932.1:p.Leu480GlnfsTer?
XR_931372.1:n.307+326_307+333del
XR_931373.1:n.447+326_447+333del
XR_931374.1:n.246+326_246+333del
NM_000834.4:c.1439_1446del	NP_000825.2:p.Leu480GlnfsTer?
XM_011520628.2:c.1439_1446del	XP_011518930.1:p.Leu480GlnfsTer?
XM_011520629.2:c.1439_1446del	XP_011518931.1:p.Leu480GlnfsTer?
XM_017019219.2:c.1439_1446del	XP_016874708.1:p.Leu480GlnfsTer?
XR_001749013.1:n.728+326_728+333del
XR_931372.2:n.444+326_444+333del
XR_931373.2:n.586+326_586+333del
NM_000834.5:c.1439_1446del MANE Select	NP_000825.2:p.Leu480GlnfsTer?