Canonical Allele Identifier: CA384052322

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13768554T>A (hg19) ; chr12:g.13615620T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615620T>A , CM000674.2:g.13615620T>A	GRCh38
NC_000012.11:g.13768554T>A , CM000674.1:g.13768554T>A	GRCh37
NC_000012.10:g.13659821T>A	NCBI36
NG_031854.1:g.369469A>T
NG_031854.2:g.371393A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1373A>T MANE Select	ENSP00000477455.1:p.Lys458Met
ENST00000630791.2:c.1373A>T	ENSP00000486677.2:p.Lys458Met
ENST00000609686.3:c.1373A>T	ENSP00000477455.1:p.Lys458Met
NM_000834.3:c.1373A>T	NP_000825.2:p.Lys458Met
XM_011520628.1:c.1373A>T	XP_011518930.1:p.Lys458Met
XM_011520629.1:c.1373A>T	XP_011518931.1:p.Lys458Met
XM_011520630.1:c.1373A>T	XP_011518932.1:p.Lys458Met
XR_931372.1:n.307+394T>A
XR_931373.1:n.447+394T>A
XR_931374.1:n.246+394T>A
NM_000834.4:c.1373A>T	NP_000825.2:p.Lys458Met
XM_011520628.2:c.1373A>T	XP_011518930.1:p.Lys458Met
XM_011520629.2:c.1373A>T	XP_011518931.1:p.Lys458Met
XM_017019219.2:c.1373A>T	XP_016874708.1:p.Lys458Met
XR_001749013.1:n.728+394T>A
XR_931372.2:n.444+394T>A
XR_931373.2:n.586+394T>A
NM_000834.5:c.1373A>T MANE Select	NP_000825.2:p.Lys458Met