Canonical Allele Identifier: CA384051482

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2950630
• ClinVar RCV Id: RCV003809940
• MyVariant Identifiers: chr12:g.13764708A>C (hg19) ; chr12:g.13611774A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13611774A>C , CM000674.2:g.13611774A>C	GRCh38
NC_000012.11:g.13764708A>C , CM000674.1:g.13764708A>C	GRCh37
NC_000012.10:g.13655975A>C	NCBI36
NG_031854.1:g.373315T>G
NG_031854.2:g.375239T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1731T>G MANE Select	ENSP00000477455.1:p.Phe577Leu
ENST00000609686.3:c.1731T>G	ENSP00000477455.1:p.Phe577Leu
NM_000834.3:c.1731T>G	NP_000825.2:p.Phe577Leu
XM_011520628.1:c.1731T>G	XP_011518930.1:p.Phe577Leu
XM_011520629.1:c.1731T>G	XP_011518931.1:p.Phe577Leu
XM_011520630.1:c.1731T>G	XP_011518932.1:p.Phe577Leu
XR_931372.1:n.179-3324A>C
XR_931373.1:n.318+3017A>C
XR_931374.1:n.117+1174A>C
NM_000834.4:c.1731T>G	NP_000825.2:p.Phe577Leu
XM_011520628.2:c.1731T>G	XP_011518930.1:p.Phe577Leu
XM_011520629.2:c.1731T>G	XP_011518931.1:p.Phe577Leu
XM_017019219.2:c.1731T>G	XP_016874708.1:p.Phe577Leu
XR_001749013.1:n.599+1174A>C
XR_931372.2:n.316-3324A>C
XR_931373.2:n.457+3017A>C
NM_000834.5:c.1731T>G MANE Select	NP_000825.2:p.Phe577Leu