Canonical Allele Identifier: CA233130986

Gene: GRIN2B

Linked Data

• dbSNP Id: rs370652051
• gnomAD v3: 12-13561040-C-G
• gnomAD v4: 12-13561040-C-G
• MyVariant Identifiers: chr12:g.13713974C>G (hg19) ; chr12:g.13561040C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13561040C>G , CM000674.2:g.13561040C>G	GRCh38
NC_000012.11:g.13713974C>G , CM000674.1:g.13713974C>G	GRCh37
NC_000012.10:g.13605241C>G	NCBI36
NG_031854.1:g.424049G>C
NG_031854.2:g.425973G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.*1743G>C MANE Select	ENSP00000477455.1:n.*1743G>C
ENST00000637214.1:c.69+47563G>C	ENSP00000489997.1:n.69+47563G>C
ENST00000609686.3:c.*1743G>C	ENSP00000477455.1:n.*1743G>C
XM_005253351.2:c.*1743G>C	XP_005253408.1:n.*1743G>C
XM_011520628.1:c.*1743G>C	XP_011518930.1:n.*1743G>C
XM_011520629.1:c.*1743G>C	XP_011518931.1:n.*1743G>C
XM_011520630.1:c.*1743G>C	XP_011518932.1:n.*1743G>C
NM_000834.4:c.*1743G>C	NP_000825.2:n.*1743G>C
XM_005253351.3:c.*1743G>C	XP_005253408.1:n.*1743G>C
XM_011520628.2:c.*1743G>C	XP_011518930.1:n.*1743G>C
XM_011520629.2:c.*1743G>C	XP_011518931.1:n.*1743G>C
XM_017019219.2:c.*1743G>C	XP_016874708.1:n.*1743G>C
NM_000834.5:c.*1743G>C MANE Select	NP_000825.2:n.*1743G>C