Canonical Allele Identifier: CA383992499

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13717169A>C (hg19) ; chr12:g.13564235A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564235A>C , CM000674.2:g.13564235A>C	GRCh38
NC_000012.11:g.13717169A>C , CM000674.1:g.13717169A>C	GRCh37
NC_000012.10:g.13608436A>C	NCBI36
NG_031854.1:g.420854T>G
NG_031854.2:g.422778T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.3003T>G MANE Select	ENSP00000477455.1:p.Asp1001Glu
ENST00000637214.1:c.69+44368T>G	ENSP00000489997.1:n.69+44368T>G
ENST00000609686.3:c.3003T>G	ENSP00000477455.1:p.Asp1001Glu
ENST00000628166.1:n.1263T>G
NM_000834.3:c.3003T>G	NP_000825.2:p.Asp1001Glu
XM_005253351.2:c.789T>G	XP_005253408.1:p.Asp263Glu
XM_011520628.1:c.3003T>G	XP_011518930.1:p.Asp1001Glu
XM_011520629.1:c.3003T>G	XP_011518931.1:p.Asp1001Glu
XM_011520630.1:c.3003T>G	XP_011518932.1:p.Asp1001Glu
NM_000834.4:c.3003T>G	NP_000825.2:p.Asp1001Glu
XM_005253351.3:c.789T>G	XP_005253408.1:p.Asp263Glu
XM_011520628.2:c.3003T>G	XP_011518930.1:p.Asp1001Glu
XM_011520629.2:c.3003T>G	XP_011518931.1:p.Asp1001Glu
XM_017019219.2:c.3003T>G	XP_016874708.1:p.Asp1001Glu
NM_000834.5:c.3003T>G MANE Select	NP_000825.2:p.Asp1001Glu