Canonical Allele Identifier: CA233131907

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1042970920
• gnomAD v4: 12-13562255-T-G
• MyVariant Identifiers: chr12:g.13715189T>G (hg19) ; chr12:g.13562255T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13562255T>G , CM000674.2:g.13562255T>G	GRCh38
NC_000012.11:g.13715189T>G , CM000674.1:g.13715189T>G	GRCh37
NC_000012.10:g.13606456T>G	NCBI36
NG_031854.1:g.422834A>C
NG_031854.2:g.424758A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.*528A>C MANE Select	ENSP00000477455.1:n.*528A>C
ENST00000636207.1:n.37A>C
ENST00000637214.1:c.69+46348A>C	ENSP00000489997.1:n.69+46348A>C
ENST00000609686.3:c.*528A>C	ENSP00000477455.1:n.*528A>C
NM_000834.3:c.*528A>C	NP_000825.2:n.*528A>C
XM_005253351.2:c.*528A>C	XP_005253408.1:n.*528A>C
XM_011520628.1:c.*528A>C	XP_011518930.1:n.*528A>C
XM_011520629.1:c.*528A>C	XP_011518931.1:n.*528A>C
XM_011520630.1:c.*528A>C	XP_011518932.1:n.*528A>C
NM_000834.4:c.*528A>C	NP_000825.2:n.*528A>C
XM_005253351.3:c.*528A>C	XP_005253408.1:n.*528A>C
XM_011520628.2:c.*528A>C	XP_011518930.1:n.*528A>C
XM_011520629.2:c.*528A>C	XP_011518931.1:n.*528A>C
XM_017019219.2:c.*528A>C	XP_016874708.1:n.*528A>C
NM_000834.5:c.*528A>C MANE Select	NP_000825.2:n.*528A>C