Canonical Allele Identifier: CA15760290
Gene: GRIN2B HGNC NCBI
COSMIC:
COSN24713439 (not active)
MyVariant.info:
GRCh38 chr12:g.13822364G>A
GRCh37 chr12:g.13975298G>A
gnomAD v2:
12:13975298 G / A
gnomAD v3:
12:13822364 G / A
gnomAD v4:
chr12-13822364-G-A
Joint Max Group AF 0.51986756 (EAS)
Genomes Max Group AF 0.51986756 (EAS)
dbSNP:
220599
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13822364G>A , CM000674.2:g.13822364G>A GRCh38
NC_000012.11:g.13975298G>A , CM000674.1:g.13975298G>A GRCh37
NC_000012.10:g.13866565G>A NCBI36
NG_031854.1:g.162725C>T
NG_031854.2:g.164649C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.411+43434C>T MANE Select ENSP00000477455.1:n.411+43434C>T
ENST00000630791.2:c.411+43434C>T ENSP00000486677.2:n.411+43434C>T
ENST00000609686.3:c.411+43434C>T ENSP00000477455.1:n.411+43434C>T
NM_000834.3:c.411+43434C>T NP_000825.2:n.411+43434C>T
XM_011520628.1:c.411+43434C>T XP_011518930.1:n.411+43434C>T
XM_011520629.1:c.411+43434C>T XP_011518931.1:n.411+43434C>T
XM_011520630.1:c.411+43434C>T XP_011518932.1:n.411+43434C>T
NM_000834.4:c.411+43434C>T NP_000825.2:n.411+43434C>T
XM_011520628.2:c.411+43434C>T XP_011518930.1:n.411+43434C>T
XM_011520629.2:c.411+43434C>T XP_011518931.1:n.411+43434C>T
XM_017019219.2:c.411+43434C>T XP_016874708.1:n.411+43434C>T
NM_000834.5:c.411+43434C>T MANE Select NP_000825.2:n.411+43434C>T
Search 100 bp 5'
Search 100 bp 3'