Canonical Allele Identifier: CA6461217

Gene: GRIN2B

Linked Data

• dbSNP Id: rs775628661
• ExAC: 12:13768127 G / A
• gnomAD v2: 12-13768127-G-A
• gnomAD v4: 12-13615193-G-A
• MyVariant Identifiers: chr12:g.13768127G>A (hg19) ; chr12:g.13615193G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615193G>A , CM000674.2:g.13615193G>A	GRCh38
NC_000012.11:g.13768127G>A , CM000674.1:g.13768127G>A	GRCh37
NC_000012.10:g.13659394G>A	NCBI36
NG_031854.1:g.369896C>T
NG_031854.2:g.371820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1575C>T MANE Select	ENSP00000477455.1:p.Phe525=
ENST00000609686.3:c.1575C>T	ENSP00000477455.1:p.Phe525=
NM_000834.3:c.1575C>T	NP_000825.2:p.Phe525=
XM_011520628.1:c.1575C>T	XP_011518930.1:p.Phe525=
XM_011520629.1:c.1575C>T	XP_011518931.1:p.Phe525=
XM_011520630.1:c.1575C>T	XP_011518932.1:p.Phe525=
XR_931372.1:n.274G>A
XR_931373.1:n.414G>A
XR_931374.1:n.213G>A
NM_000834.4:c.1575C>T	NP_000825.2:p.Phe525=
XM_011520628.2:c.1575C>T	XP_011518930.1:p.Phe525=
XM_011520629.2:c.1575C>T	XP_011518931.1:p.Phe525=
XM_017019219.2:c.1575C>T	XP_016874708.1:p.Phe525=
XR_001749013.1:n.695G>A
XR_931372.2:n.411G>A
XR_931373.2:n.553G>A
NM_000834.5:c.1575C>T MANE Select	NP_000825.2:p.Phe525=