Canonical Allele Identifier: CA384051272

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 916606
• ClinVar RCV Id: RCV001172362
• dbSNP Id: rs1057518700
• MyVariant Identifiers: chr12:g.13761726C>A (hg19) ; chr12:g.13608792C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608792C>A , CM000674.2:g.13608792C>A	GRCh38
NC_000012.11:g.13761726C>A , CM000674.1:g.13761726C>A	GRCh37
NC_000012.10:g.13652993C>A	NCBI36
NG_031854.1:g.376297G>T
NG_031854.2:g.378221G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1821G>T MANE Select	ENSP00000477455.1:p.Trp607Cys
ENST00000628166.2:n.81G>T
ENST00000609686.3:c.1821G>T	ENSP00000477455.1:p.Trp607Cys
ENST00000628166.1:n.81G>T
NM_000834.3:c.1821G>T	NP_000825.2:p.Trp607Cys
XM_011520628.1:c.1821G>T	XP_011518930.1:p.Trp607Cys
XM_011520629.1:c.1821G>T	XP_011518931.1:p.Trp607Cys
XM_011520630.1:c.1821G>T	XP_011518932.1:p.Trp607Cys
XR_931372.1:n.179-6306C>A
XR_931373.1:n.318+35C>A
NM_000834.4:c.1821G>T	NP_000825.2:p.Trp607Cys
XM_011520628.2:c.1821G>T	XP_011518930.1:p.Trp607Cys
XM_011520629.2:c.1821G>T	XP_011518931.1:p.Trp607Cys
XM_017019219.2:c.1821G>T	XP_016874708.1:p.Trp607Cys
XR_001749013.1:n.457+35C>A
XR_931372.2:n.316-6306C>A
XR_931373.2:n.457+35C>A
NM_000834.5:c.1821G>T MANE Select	NP_000825.2:p.Trp607Cys