Canonical Allele Identifier: CA383990590

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13716997C>G (hg19) ; chr12:g.13564063C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564063C>G , CM000674.2:g.13564063C>G	GRCh38
NC_000012.11:g.13716997C>G , CM000674.1:g.13716997C>G	GRCh37
NC_000012.10:g.13608264C>G	NCBI36
NG_031854.1:g.421026G>C
NG_031854.2:g.422950G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.3175G>C MANE Select	ENSP00000477455.1:p.Asp1059His
ENST00000637214.1:c.69+44540G>C	ENSP00000489997.1:n.69+44540G>C
ENST00000609686.3:c.3175G>C	ENSP00000477455.1:p.Asp1059His
ENST00000628166.1:n.1435G>C
NM_000834.3:c.3175G>C	NP_000825.2:p.Asp1059His
XM_005253351.2:c.961G>C	XP_005253408.1:p.Asp321His
XM_011520628.1:c.3175G>C	XP_011518930.1:p.Asp1059His
XM_011520629.1:c.3175G>C	XP_011518931.1:p.Asp1059His
XM_011520630.1:c.3175G>C	XP_011518932.1:p.Asp1059His
NM_000834.4:c.3175G>C	NP_000825.2:p.Asp1059His
XM_005253351.3:c.961G>C	XP_005253408.1:p.Asp321His
XM_011520628.2:c.3175G>C	XP_011518930.1:p.Asp1059His
XM_011520629.2:c.3175G>C	XP_011518931.1:p.Asp1059His
XM_017019219.2:c.3175G>C	XP_016874708.1:p.Asp1059His
NM_000834.5:c.3175G>C MANE Select	NP_000825.2:p.Asp1059His