Canonical Allele Identifier: CA2017462991

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1949421261

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615234_13615235insAATAAGGAAAAAAG , CM000674.2:g.13615234_13615235insAATAAGGAAAAAAG	GRCh38
NC_000012.11:g.13768168_13768169insAATAAGGAAAAAAG , CM000674.1:g.13768168_13768169insAATAAGGAAAAAAG	GRCh37
NC_000012.10:g.13659435_13659436insAATAAGGAAAAAAG	NCBI36
NG_031854.1:g.369854_369855insCTTTTTTCCTTATT
NG_031854.2:g.371778_371779insCTTTTTTCCTTATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1533_1534insCTTTTTTCCTTATT MANE Select	ENSP00000477455.1:p.Ser512LeufsTer24
ENST00000609686.3:c.1533_1534insCTTTTTTCCTTATT	ENSP00000477455.1:p.Ser512LeufsTer24
NM_000834.3:c.1533_1534insCTTTTTTCCTTATT	NP_000825.2:p.Ser512LeufsTer24
XM_011520628.1:c.1533_1534insCTTTTTTCCTTATT	XP_011518930.1:p.Ser512LeufsTer24
XM_011520629.1:c.1533_1534insCTTTTTTCCTTATT	XP_011518931.1:p.Ser512LeufsTer24
XM_011520630.1:c.1533_1534insCTTTTTTCCTTATT	XP_011518932.1:p.Ser512LeufsTer24
XR_931372.1:n.307+8_307+9insAATAAGGAAAAAAG
XR_931373.1:n.447+8_447+9insAATAAGGAAAAAAG
XR_931374.1:n.246+8_246+9insAATAAGGAAAAAAG
NM_000834.4:c.1533_1534insCTTTTTTCCTTATT	NP_000825.2:p.Ser512LeufsTer24
XM_011520628.2:c.1533_1534insCTTTTTTCCTTATT	XP_011518930.1:p.Ser512LeufsTer24
XM_011520629.2:c.1533_1534insCTTTTTTCCTTATT	XP_011518931.1:p.Ser512LeufsTer24
XM_017019219.2:c.1533_1534insCTTTTTTCCTTATT	XP_016874708.1:p.Ser512LeufsTer24
XR_001749013.1:n.728+8_728+9insAATAAGGAAAAAAG
XR_931372.2:n.444+8_444+9insAATAAGGAAAAAAG
XR_931373.2:n.586+8_586+9insAATAAGGAAAAAAG
NM_000834.5:c.1533_1534insCTTTTTTCCTTATT MANE Select	NP_000825.2:p.Ser512LeufsTer24