Canonical Allele Identifier: CA384052079

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13768450T>A (hg19) ; chr12:g.13615516T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615516T>A , CM000674.2:g.13615516T>A	GRCh38
NC_000012.11:g.13768450T>A , CM000674.1:g.13768450T>A	GRCh37
NC_000012.10:g.13659717T>A	NCBI36
NG_031854.1:g.369573A>T
NG_031854.2:g.371497A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1477A>T MANE Select	ENSP00000477455.1:p.Thr493Ser
ENST00000609686.3:c.1477A>T	ENSP00000477455.1:p.Thr493Ser
NM_000834.3:c.1477A>T	NP_000825.2:p.Thr493Ser
XM_011520628.1:c.1477A>T	XP_011518930.1:p.Thr493Ser
XM_011520629.1:c.1477A>T	XP_011518931.1:p.Thr493Ser
XM_011520630.1:c.1477A>T	XP_011518932.1:p.Thr493Ser
XR_931372.1:n.307+290T>A
XR_931373.1:n.447+290T>A
XR_931374.1:n.246+290T>A
NM_000834.4:c.1477A>T	NP_000825.2:p.Thr493Ser
XM_011520628.2:c.1477A>T	XP_011518930.1:p.Thr493Ser
XM_011520629.2:c.1477A>T	XP_011518931.1:p.Thr493Ser
XM_017019219.2:c.1477A>T	XP_016874708.1:p.Thr493Ser
XR_001749013.1:n.728+290T>A
XR_931372.2:n.444+290T>A
XR_931373.2:n.586+290T>A
NM_000834.5:c.1477A>T MANE Select	NP_000825.2:p.Thr493Ser