Canonical Allele Identifier: CA130434
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 430527
dbSNP Id: rs398122823

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13866116dup , CM000674.2:g.13866116dup GRCh38
NC_000012.11:g.14019050dup , CM000674.1:g.14019050dup GRCh37
NC_000012.10:g.13910317dup NCBI36
NG_031854.1:g.118979dup
NG_031854.2:g.120903dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.99dup MANE Select ENSP00000477455.1:p.Ser34GlnfsTer25
ENST00000630791.2:c.99dup ENSP00000486677.2:p.Ser34GlnfsTer25
ENST00000609686.3:c.99dup ENSP00000477455.1:p.Ser34GlnfsTer25
ENST00000627535.2:c.99dup ENSP00000486411.1:p.Ser34GlnfsTer?
ENST00000630791.1:c.99dup ENSP00000486677.1:p.Ser34GlnfsTer?
NM_000834.3:c.99dup NP_000825.2:p.Ser34GlnfsTer25
XM_011520628.1:c.99dup XP_011518930.1:p.Ser34GlnfsTer25
XM_011520629.1:c.99dup XP_011518931.1:p.Ser34GlnfsTer25
XM_011520630.1:c.99dup XP_011518932.1:p.Ser34GlnfsTer25
NM_000834.4:c.99dup NP_000825.2:p.Ser34GlnfsTer25
XM_011520628.2:c.99dup XP_011518930.1:p.Ser34GlnfsTer25
XM_011520629.2:c.99dup XP_011518931.1:p.Ser34GlnfsTer25
XM_017019219.2:c.99dup XP_016874708.1:p.Ser34GlnfsTer25
NM_000834.5:c.99dup MANE Select NP_000825.2:p.Ser34GlnfsTer25