Canonical Allele Identifier: CA383992191

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13564152-G-A
• COSMIC: COSM4486657
• MyVariant Identifiers: chr12:g.13717086G>A (hg19) ; chr12:g.13564152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564152G>A , CM000674.2:g.13564152G>A	GRCh38
NC_000012.11:g.13717086G>A , CM000674.1:g.13717086G>A	GRCh37
NC_000012.10:g.13608353G>A	NCBI36
NG_031854.1:g.420937C>T
NG_031854.2:g.422861C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.3086C>T MANE Select	ENSP00000477455.1:p.Ser1029Phe
ENST00000637214.1:c.69+44451C>T	ENSP00000489997.1:n.69+44451C>T
ENST00000609686.3:c.3086C>T	ENSP00000477455.1:p.Ser1029Phe
ENST00000628166.1:n.1346C>T
NM_000834.3:c.3086C>T	NP_000825.2:p.Ser1029Phe
XM_005253351.2:c.872C>T	XP_005253408.1:p.Ser291Phe
XM_011520628.1:c.3086C>T	XP_011518930.1:p.Ser1029Phe
XM_011520629.1:c.3086C>T	XP_011518931.1:p.Ser1029Phe
XM_011520630.1:c.3086C>T	XP_011518932.1:p.Ser1029Phe
NM_000834.4:c.3086C>T	NP_000825.2:p.Ser1029Phe
XM_005253351.3:c.872C>T	XP_005253408.1:p.Ser291Phe
XM_011520628.2:c.3086C>T	XP_011518930.1:p.Ser1029Phe
XM_011520629.2:c.3086C>T	XP_011518931.1:p.Ser1029Phe
XM_017019219.2:c.3086C>T	XP_016874708.1:p.Ser1029Phe
NM_000834.5:c.3086C>T MANE Select	NP_000825.2:p.Ser1029Phe