Canonical Allele Identifier: CA2017463386

Gene: GRIN2B

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615546_13615554delinsTGGTAACCA , CM000674.2:g.13615546_13615554delinsTGGTAACCA	GRCh38
NC_000012.11:g.13768480_13768488delinsTGGTAACCA , CM000674.1:g.13768480_13768488delinsTGGTAACCA	GRCh37
NC_000012.10:g.13659747_13659755delinsTGGTAACCA	NCBI36
NG_031854.1:g.369535_369543delinsTGGTTACCA
NG_031854.2:g.371459_371467delinsTGGTTACCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1439_1447delinsTGGTTACCA MANE Select	ENSP00000477455.1:p.Leu480=
ENST00000609686.3:c.1439_1447delinsTGGTTACCA	ENSP00000477455.1:p.Leu480=
NM_000834.3:c.1439_1447delinsTGGTTACCA	NP_000825.2:p.Leu480=
XM_011520628.1:c.1439_1447delinsTGGTTACCA	XP_011518930.1:p.Leu480=
XM_011520629.1:c.1439_1447delinsTGGTTACCA	XP_011518931.1:p.Leu480=
XM_011520630.1:c.1439_1447delinsTGGTTACCA	XP_011518932.1:p.Leu480=
XR_931372.1:n.307+320_307+328delinsTGGTAACCA
XR_931373.1:n.447+320_447+328delinsTGGTAACCA
XR_931374.1:n.246+320_246+328delinsTGGTAACCA
NM_000834.4:c.1439_1447delinsTGGTTACCA	NP_000825.2:p.Leu480=
XM_011520628.2:c.1439_1447delinsTGGTTACCA	XP_011518930.1:p.Leu480=
XM_011520629.2:c.1439_1447delinsTGGTTACCA	XP_011518931.1:p.Leu480=
XM_017019219.2:c.1439_1447delinsTGGTTACCA	XP_016874708.1:p.Leu480=
XR_001749013.1:n.728+320_728+328delinsTGGTAACCA
XR_931372.2:n.444+320_444+328delinsTGGTAACCA
XR_931373.2:n.586+320_586+328delinsTGGTAACCA
NM_000834.5:c.1439_1447delinsTGGTTACCA MANE Select	NP_000825.2:p.Leu480=