Canonical Allele Identifier: CA478771508
Gene: GRIN2B HGNC NCBI

Linked Data

dbSNP Id: rs1591640549
MyVariant Identifiers: chr12:g.13764717G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13611783G>C , CM000674.2:g.13611783G>C GRCh38
NC_000012.11:g.13764717G>C , CM000674.1:g.13764717G>C GRCh37
NC_000012.10:g.13655984G>C NCBI36
NG_031854.1:g.373306C>G
NG_031854.2:g.375230C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.1722C>G MANE Select ENSP00000477455.1:p.Val574=
ENST00000609686.3:c.1722C>G ENSP00000477455.1:p.Val574=
NM_000834.3:c.1722C>G NP_000825.2:p.Val574=
XM_011520628.1:c.1722C>G XP_011518930.1:p.Val574=
XM_011520629.1:c.1722C>G XP_011518931.1:p.Val574=
XM_011520630.1:c.1722C>G XP_011518932.1:p.Val574=
XR_931372.1:n.179-3315G>C
XR_931373.1:n.318+3026G>C
XR_931374.1:n.117+1183G>C
NM_000834.4:c.1722C>G NP_000825.2:p.Val574=
XM_011520628.2:c.1722C>G XP_011518930.1:p.Val574=
XM_011520629.2:c.1722C>G XP_011518931.1:p.Val574=
XM_017019219.2:c.1722C>G XP_016874708.1:p.Val574=
XR_001749013.1:n.599+1183G>C
XR_931372.2:n.316-3315G>C
XR_931373.2:n.457+3026G>C
NM_000834.5:c.1722C>G MANE Select NP_000825.2:p.Val574=