Canonical Allele Identifier: CA384051449

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2574146
• ClinVar RCV Id: RCV003318518
• MyVariant Identifiers: chr12:g.13764695G>A (hg19) ; chr12:g.13611761G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13611761G>A , CM000674.2:g.13611761G>A	GRCh38
NC_000012.11:g.13764695G>A , CM000674.1:g.13764695G>A	GRCh37
NC_000012.10:g.13655962G>A	NCBI36
NG_031854.1:g.373328C>T
NG_031854.2:g.375252C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.1744C>T MANE Select	ENSP00000477455.1:p.Pro582Ser
ENST00000609686.3:c.1744C>T	ENSP00000477455.1:p.Pro582Ser
NM_000834.3:c.1744C>T	NP_000825.2:p.Pro582Ser
XM_011520628.1:c.1744C>T	XP_011518930.1:p.Pro582Ser
XM_011520629.1:c.1744C>T	XP_011518931.1:p.Pro582Ser
XM_011520630.1:c.1744C>T	XP_011518932.1:p.Pro582Ser
XR_931372.1:n.179-3337G>A
XR_931373.1:n.318+3004G>A
XR_931374.1:n.117+1161G>A
NM_000834.4:c.1744C>T	NP_000825.2:p.Pro582Ser
XM_011520628.2:c.1744C>T	XP_011518930.1:p.Pro582Ser
XM_011520629.2:c.1744C>T	XP_011518931.1:p.Pro582Ser
XM_017019219.2:c.1744C>T	XP_016874708.1:p.Pro582Ser
XR_001749013.1:n.599+1161G>A
XR_931372.2:n.316-3337G>A
XR_931373.2:n.457+3004G>A
NM_000834.5:c.1744C>T MANE Select	NP_000825.2:p.Pro582Ser