Canonical Allele Identifier: CA384054552
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1473866
ClinVar RCV Id: RCV001970908
dbSNP Id: rs1865821627

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13866021G>A , CM000674.2:g.13866021G>A GRCh38
NC_000012.11:g.14018955G>A , CM000674.1:g.14018955G>A GRCh37
NC_000012.10:g.13910222G>A NCBI36
NG_031854.1:g.119068C>T
NG_031854.2:g.120992C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.188C>T MANE Select ENSP00000477455.1:p.Ser63Phe
ENST00000630791.2:c.188C>T ENSP00000486677.2:p.Ser63Phe
ENST00000609686.3:c.188C>T ENSP00000477455.1:p.Ser63Phe
NM_000834.3:c.188C>T NP_000825.2:p.Ser63Phe
XM_011520628.1:c.188C>T XP_011518930.1:p.Ser63Phe
XM_011520629.1:c.188C>T XP_011518931.1:p.Ser63Phe
XM_011520630.1:c.188C>T XP_011518932.1:p.Ser63Phe
NM_000834.4:c.188C>T NP_000825.2:p.Ser63Phe
XM_011520628.2:c.188C>T XP_011518930.1:p.Ser63Phe
XM_011520629.2:c.188C>T XP_011518931.1:p.Ser63Phe
XM_017019219.2:c.188C>T XP_016874708.1:p.Ser63Phe
NM_000834.5:c.188C>T MANE Select NP_000825.2:p.Ser63Phe