Canonical Allele Identifier: CA16607180
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 392200
ClinVar RCV Id: RCV000422130
dbSNP Id: rs1057524392
MyVariant Identifiers: chr12:g.13768555T>A (hg19) chr12:g.13615621T>A (hg38)
JSON-LD

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'