Canonical Allele Identifier: CA6461206

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1343859
• ClinVar RCV Id: RCV001847404
• dbSNP Id: rs562716391
• ExAC: 12:13768012 C / T
• gnomAD v2: 12-13768012-C-T
• gnomAD v3: 12-13615078-C-T
• gnomAD v4: 12-13615078-C-T
• MyVariant Identifiers: chr12:g.13768012C>T (hg19) ; chr12:g.13615078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615078C>T , CM000674.2:g.13615078C>T	GRCh38
NC_000012.11:g.13768012C>T , CM000674.1:g.13768012C>T	GRCh37
NC_000012.10:g.13659279C>T	NCBI36
NG_031854.1:g.370011G>A
NG_031854.2:g.371935G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1654+36G>A MANE Select	ENSP00000477455.1:n.1654+36G>A
ENST00000609686.3:c.1654+36G>A	ENSP00000477455.1:n.1654+36G>A
NM_000834.3:c.1654+36G>A	NP_000825.2:n.1654+36G>A
XM_011520628.1:c.1654+36G>A	XP_011518930.1:n.1654+36G>A
XM_011520629.1:c.1654+36G>A	XP_011518931.1:n.1654+36G>A
XM_011520630.1:c.1654+36G>A	XP_011518932.1:n.1654+36G>A
XR_931372.1:n.179-20C>T
XR_931373.1:n.319-20C>T
XR_931374.1:n.118-20C>T
NM_000834.4:c.1654+36G>A	NP_000825.2:n.1654+36G>A
XM_011520628.2:c.1654+36G>A	XP_011518930.1:n.1654+36G>A
XM_011520629.2:c.1654+36G>A	XP_011518931.1:n.1654+36G>A
XM_017019219.2:c.1654+36G>A	XP_016874708.1:n.1654+36G>A
XR_001749013.1:n.600-20C>T
XR_931372.2:n.316-20C>T
XR_931373.2:n.458-20C>T
NM_000834.5:c.1654+36G>A MANE Select	NP_000825.2:n.1654+36G>A