Canonical Allele Identifier: CA478773437

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1667254
• ClinVar RCV Id: RCV002184553
• dbSNP Id: rs1272584608
• gnomAD v2: 12-13768538-G-A
• gnomAD v4: 12-13615604-G-A
• MyVariant Identifiers: chr12:g.13768538G>A (hg19) ; chr12:g.13615604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615604G>A , CM000674.2:g.13615604G>A	GRCh38
NC_000012.11:g.13768538G>A , CM000674.1:g.13768538G>A	GRCh37
NC_000012.10:g.13659805G>A	NCBI36
NG_031854.1:g.369485C>T
NG_031854.2:g.371409C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1389C>T MANE Select	ENSP00000477455.1:p.Asp463=
ENST00000630791.2:c.1389C>T	ENSP00000486677.2:p.Asp463=
ENST00000609686.3:c.1389C>T	ENSP00000477455.1:p.Asp463=
NM_000834.3:c.1389C>T	NP_000825.2:p.Asp463=
XM_011520628.1:c.1389C>T	XP_011518930.1:p.Asp463=
XM_011520629.1:c.1389C>T	XP_011518931.1:p.Asp463=
XM_011520630.1:c.1389C>T	XP_011518932.1:p.Asp463=
XR_931372.1:n.307+378G>A
XR_931373.1:n.447+378G>A
XR_931374.1:n.246+378G>A
NM_000834.4:c.1389C>T	NP_000825.2:p.Asp463=
XM_011520628.2:c.1389C>T	XP_011518930.1:p.Asp463=
XM_011520629.2:c.1389C>T	XP_011518931.1:p.Asp463=
XM_017019219.2:c.1389C>T	XP_016874708.1:p.Asp463=
XR_001749013.1:n.728+378G>A
XR_931372.2:n.444+378G>A
XR_931373.2:n.586+378G>A
NM_000834.5:c.1389C>T MANE Select	NP_000825.2:p.Asp463=