Allele Registry

Canonical Allele Identifier: CA16607180

Gene: GRIN2B HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.13615621T>A

GRCh37 chr12:g.13768555T>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000422130

ClinVar Variation:

392200

dbSNP:

1057524392

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615621T>A , CM000674.2:g.13615621T>A	GRCh38
NC_000012.11:g.13768555T>A , CM000674.1:g.13768555T>A	GRCh37
NC_000012.10:g.13659822T>A	NCBI36
NG_031854.1:g.369468A>T
NG_031854.2:g.371392A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1372A>T MANE Select	ENSP00000477455.1:p.Lys458Ter
ENST00000630791.2:c.1372A>T	ENSP00000486677.2:p.Lys458Ter
ENST00000609686.3:c.1372A>T	ENSP00000477455.1:p.Lys458Ter
NM_000834.3:c.1372A>T	NP_000825.2:p.Lys458Ter
XM_011520628.1:c.1372A>T	XP_011518930.1:p.Lys458Ter
XM_011520629.1:c.1372A>T	XP_011518931.1:p.Lys458Ter
XM_011520630.1:c.1372A>T	XP_011518932.1:p.Lys458Ter
XR_931372.1:n.307+395T>A
XR_931373.1:n.447+395T>A
XR_931374.1:n.246+395T>A
NM_000834.4:c.1372A>T	NP_000825.2:p.Lys458Ter
XM_011520628.2:c.1372A>T	XP_011518930.1:p.Lys458Ter
XM_011520629.2:c.1372A>T	XP_011518931.1:p.Lys458Ter
XM_017019219.2:c.1372A>T	XP_016874708.1:p.Lys458Ter
XR_001749013.1:n.728+395T>A
XR_931372.2:n.444+395T>A
XR_931373.2:n.586+395T>A
NM_000834.5:c.1372A>T MANE Select	NP_000825.2:p.Lys458Ter

Search 100 bp 5'

Search 100 bp 3'