Canonical Allele Identifier: CA233011649

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1805539
• gnomAD v2: 12-13770190-G-A
• gnomAD v3: 12-13617256-G-A
• gnomAD v4: 12-13617256-G-A
• MyVariant Identifiers: chr12:g.13770190G>A (hg19) ; chr12:g.13617256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13617256G>A , CM000674.2:g.13617256G>A	GRCh38
NC_000012.11:g.13770190G>A , CM000674.1:g.13770190G>A	GRCh37
NC_000012.10:g.13661457G>A	NCBI36
NG_031854.1:g.367833C>T
NG_031854.2:g.369757C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.1126-599C>T MANE Select	ENSP00000477455.1:n.1126-599C>T
ENST00000630791.2:c.1126-599C>T	ENSP00000486677.2:n.1126-599C>T
ENST00000609686.3:c.1126-599C>T	ENSP00000477455.1:n.1126-599C>T
NM_000834.3:c.1126-599C>T	NP_000825.2:n.1126-599C>T
XM_011520628.1:c.1126-599C>T	XP_011518930.1:n.1126-599C>T
XM_011520629.1:c.1126-599C>T	XP_011518931.1:n.1126-599C>T
XM_011520630.1:c.1126-599C>T	XP_011518932.1:n.1126-599C>T
XR_931372.1:n.307+2030G>A
XR_931373.1:n.447+2030G>A
XR_931374.1:n.246+2030G>A
NM_000834.4:c.1126-599C>T	NP_000825.2:n.1126-599C>T
XM_011520628.2:c.1126-599C>T	XP_011518930.1:n.1126-599C>T
XM_011520629.2:c.1126-599C>T	XP_011518931.1:n.1126-599C>T
XM_017019219.2:c.1126-599C>T	XP_016874708.1:n.1126-599C>T
XR_001749013.1:n.728+2030G>A
XR_931372.2:n.444+2030G>A
XR_931373.2:n.586+2030G>A
NM_000834.5:c.1126-599C>T MANE Select	NP_000825.2:n.1126-599C>T