Canonical Allele Identifier: CA233161348

Gene: GRIN2B

Linked Data

• dbSNP Id: rs576344369
• gnomAD v2: 12-14134763-G-C
• gnomAD v3: 12-13981829-G-C
• gnomAD v4: 12-13981829-G-C
• MyVariant Identifiers: chr12:g.14134763G>C (hg19) ; chr12:g.13981829G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13981829G>C , CM000674.2:g.13981829G>C	GRCh38
NC_000012.11:g.14134763G>C , CM000674.1:g.14134763G>C	GRCh37
NC_000012.10:g.14026030G>C	NCBI36
NG_031854.1:g.3260C>G
NG_031854.2:g.5184C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000630791.2:c.-683+87C>G	ENSP00000486677.2:n.-683+87C>G
ENST00000627535.2:c.-448+87C>G	ENSP00000486411.1:n.-448+87C>G
ENST00000630791.1:c.-683+87C>G	ENSP00000486677.1:n.-683+87C>G
XM_011520629.1:c.-683+87C>G	XP_011518931.1:n.-683+87C>G
XM_011520628.2:c.-935C>G	XP_011518930.1:n.-935C>G
XM_011520629.2:c.-683+87C>G	XP_011518931.1:n.-683+87C>G