Canonical Allele Identifier: CA384051902

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2945890
• ClinVar RCV Id: RCV003803984
• MyVariant Identifiers: chr12:g.13768153C>T (hg19) ; chr12:g.13615219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615219C>T , CM000674.2:g.13615219C>T	GRCh38
NC_000012.11:g.13768153C>T , CM000674.1:g.13768153C>T	GRCh37
NC_000012.10:g.13659420C>T	NCBI36
NG_031854.1:g.369870G>A
NG_031854.2:g.371794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1549G>A MANE Select	ENSP00000477455.1:p.Glu517Lys
ENST00000609686.3:c.1549G>A	ENSP00000477455.1:p.Glu517Lys
NM_000834.3:c.1549G>A	NP_000825.2:p.Glu517Lys
XM_011520628.1:c.1549G>A	XP_011518930.1:p.Glu517Lys
XM_011520629.1:c.1549G>A	XP_011518931.1:p.Glu517Lys
XM_011520630.1:c.1549G>A	XP_011518932.1:p.Glu517Lys
XR_931372.1:n.300C>T
XR_931373.1:n.440C>T
XR_931374.1:n.239C>T
NM_000834.4:c.1549G>A	NP_000825.2:p.Glu517Lys
XM_011520628.2:c.1549G>A	XP_011518930.1:p.Glu517Lys
XM_011520629.2:c.1549G>A	XP_011518931.1:p.Glu517Lys
XM_017019219.2:c.1549G>A	XP_016874708.1:p.Glu517Lys
XR_001749013.1:n.721C>T
XR_931372.2:n.437C>T
XR_931373.2:n.579C>T
NM_000834.5:c.1549G>A MANE Select	NP_000825.2:p.Glu517Lys