Canonical Allele Identifier: CA478771517
Gene: GRIN2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.13764723C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13611789C>G , CM000674.2:g.13611789C>G GRCh38
NC_000012.11:g.13764723C>G , CM000674.1:g.13764723C>G GRCh37
NC_000012.10:g.13655990C>G NCBI36
NG_031854.1:g.373300G>C
NG_031854.2:g.375224G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.1716G>C MANE Select ENSP00000477455.1:p.Val572=
ENST00000609686.3:c.1716G>C ENSP00000477455.1:p.Val572=
NM_000834.3:c.1716G>C NP_000825.2:p.Val572=
XM_011520628.1:c.1716G>C XP_011518930.1:p.Val572=
XM_011520629.1:c.1716G>C XP_011518931.1:p.Val572=
XM_011520630.1:c.1716G>C XP_011518932.1:p.Val572=
XR_931372.1:n.179-3309C>G
XR_931373.1:n.318+3032C>G
XR_931374.1:n.117+1189C>G
NM_000834.4:c.1716G>C NP_000825.2:p.Val572=
XM_011520628.2:c.1716G>C XP_011518930.1:p.Val572=
XM_011520629.2:c.1716G>C XP_011518931.1:p.Val572=
XM_017019219.2:c.1716G>C XP_016874708.1:p.Val572=
XR_001749013.1:n.599+1189C>G
XR_931372.2:n.316-3309C>G
XR_931373.2:n.457+3032C>G
NM_000834.5:c.1716G>C MANE Select NP_000825.2:p.Val572=