Canonical Allele Identifier: CA384053547

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.14018758C>A (hg19) ; chr12:g.13865824C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13865824C>A , CM000674.2:g.13865824C>A	GRCh38
NC_000012.11:g.14018758C>A , CM000674.1:g.14018758C>A	GRCh37
NC_000012.10:g.13910025C>A	NCBI36
NG_031854.1:g.119265G>T
NG_031854.2:g.121189G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.385G>T MANE Select	ENSP00000477455.1:p.Gly129Cys
ENST00000630791.2:c.385G>T	ENSP00000486677.2:p.Gly129Cys
ENST00000609686.3:c.385G>T	ENSP00000477455.1:p.Gly129Cys
NM_000834.3:c.385G>T	NP_000825.2:p.Gly129Cys
XM_011520628.1:c.385G>T	XP_011518930.1:p.Gly129Cys
XM_011520629.1:c.385G>T	XP_011518931.1:p.Gly129Cys
XM_011520630.1:c.385G>T	XP_011518932.1:p.Gly129Cys
NM_000834.4:c.385G>T	NP_000825.2:p.Gly129Cys
XM_011520628.2:c.385G>T	XP_011518930.1:p.Gly129Cys
XM_011520629.2:c.385G>T	XP_011518931.1:p.Gly129Cys
XM_017019219.2:c.385G>T	XP_016874708.1:p.Gly129Cys
NM_000834.5:c.385G>T MANE Select	NP_000825.2:p.Gly129Cys