Canonical Allele Identifier: CA384051445

Gene: GRIN2B

Linked Data

• COSMIC: COSM430809
• MyVariant Identifiers: chr12:g.13764692C>G (hg19) ; chr12:g.13611758C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13611758C>G , CM000674.2:g.13611758C>G	GRCh38
NC_000012.11:g.13764692C>G , CM000674.1:g.13764692C>G	GRCh37
NC_000012.10:g.13655959C>G	NCBI36
NG_031854.1:g.373331G>C
NG_031854.2:g.375255G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.1747G>C MANE Select	ENSP00000477455.1:p.Val583Leu
ENST00000609686.3:c.1747G>C	ENSP00000477455.1:p.Val583Leu
NM_000834.3:c.1747G>C	NP_000825.2:p.Val583Leu
XM_011520628.1:c.1747G>C	XP_011518930.1:p.Val583Leu
XM_011520629.1:c.1747G>C	XP_011518931.1:p.Val583Leu
XM_011520630.1:c.1747G>C	XP_011518932.1:p.Val583Leu
XR_931372.1:n.179-3340C>G
XR_931373.1:n.318+3001C>G
XR_931374.1:n.117+1158C>G
NM_000834.4:c.1747G>C	NP_000825.2:p.Val583Leu
XM_011520628.2:c.1747G>C	XP_011518930.1:p.Val583Leu
XM_011520629.2:c.1747G>C	XP_011518931.1:p.Val583Leu
XM_017019219.2:c.1747G>C	XP_016874708.1:p.Val583Leu
XR_001749013.1:n.599+1158C>G
XR_931372.2:n.316-3340C>G
XR_931373.2:n.457+3001C>G
NM_000834.5:c.1747G>C MANE Select	NP_000825.2:p.Val583Leu