Canonical Allele Identifier: CA478848562
Gene: GRIN2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.13717049T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13564115T>C , CM000674.2:g.13564115T>C GRCh38
NC_000012.11:g.13717049T>C , CM000674.1:g.13717049T>C GRCh37
NC_000012.10:g.13608316T>C NCBI36
NG_031854.1:g.420974A>G
NG_031854.2:g.422898A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.3123A>G MANE Select ENSP00000477455.1:p.Lys1041=
ENST00000637214.1:c.69+44488A>G ENSP00000489997.1:n.69+44488A>G
ENST00000609686.3:c.3123A>G ENSP00000477455.1:p.Lys1041=
ENST00000628166.1:n.1383A>G
NM_000834.3:c.3123A>G NP_000825.2:p.Lys1041=
XM_005253351.2:c.909A>G XP_005253408.1:p.Lys303=
XM_011520628.1:c.3123A>G XP_011518930.1:p.Lys1041=
XM_011520629.1:c.3123A>G XP_011518931.1:p.Lys1041=
XM_011520630.1:c.3123A>G XP_011518932.1:p.Lys1041=
NM_000834.4:c.3123A>G NP_000825.2:p.Lys1041=
XM_005253351.3:c.909A>G XP_005253408.1:p.Lys303=
XM_011520628.2:c.3123A>G XP_011518930.1:p.Lys1041=
XM_011520629.2:c.3123A>G XP_011518931.1:p.Lys1041=
XM_017019219.2:c.3123A>G XP_016874708.1:p.Lys1041=
NM_000834.5:c.3123A>G MANE Select NP_000825.2:p.Lys1041=