Canonical Allele Identifier: CA10605276

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 285854
• ClinVar RCV Id: RCV000388039 ; RCV001265251
• dbSNP Id: rs886043237
• MyVariant Identifiers: chr12:g.13761724A>T (hg19) ; chr12:g.13608790A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608790A>T , CM000674.2:g.13608790A>T	GRCh38
NC_000012.11:g.13761724A>T , CM000674.1:g.13761724A>T	GRCh37
NC_000012.10:g.13652991A>T	NCBI36
NG_031854.1:g.376299T>A
NG_031854.2:g.378223T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1823T>A MANE Select	ENSP00000477455.1:p.Leu608Ter
ENST00000628166.2:n.83T>A
ENST00000609686.3:c.1823T>A	ENSP00000477455.1:p.Leu608Ter
ENST00000628166.1:n.83T>A
NM_000834.3:c.1823T>A	NP_000825.2:p.Leu608Ter
XM_011520628.1:c.1823T>A	XP_011518930.1:p.Leu608Ter
XM_011520629.1:c.1823T>A	XP_011518931.1:p.Leu608Ter
XM_011520630.1:c.1823T>A	XP_011518932.1:p.Leu608Ter
XR_931372.1:n.179-6308A>T
XR_931373.1:n.318+33A>T
NM_000834.4:c.1823T>A	NP_000825.2:p.Leu608Ter
XM_011520628.2:c.1823T>A	XP_011518930.1:p.Leu608Ter
XM_011520629.2:c.1823T>A	XP_011518931.1:p.Leu608Ter
XM_017019219.2:c.1823T>A	XP_016874708.1:p.Leu608Ter
XR_001749013.1:n.457+33A>T
XR_931372.2:n.316-6308A>T
XR_931373.2:n.457+33A>T
NM_000834.5:c.1823T>A MANE Select	NP_000825.2:p.Leu608Ter