Canonical Allele Identifier: CA6461103

Gene: GRIN2B

Linked Data

• dbSNP Id: rs768830764
• ExAC: 12:13722975 A / G
• gnomAD v2: 12-13722975-A-G
• gnomAD v4: 12-13570041-A-G
• MyVariant Identifiers: chr12:g.13722975A>G (hg19) ; chr12:g.13570041A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13570041A>G , CM000674.2:g.13570041A>G	GRCh38
NC_000012.11:g.13722975A>G , CM000674.1:g.13722975A>G	GRCh37
NC_000012.10:g.13614242A>G	NCBI36
NG_031854.1:g.415048T>C
NG_031854.2:g.416972T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2172-24T>C MANE Select	ENSP00000477455.1:n.2172-24T>C
ENST00000628166.2:n.432-24T>C
ENST00000637214.1:c.69+38562T>C	ENSP00000489997.1:n.69+38562T>C
ENST00000609686.3:c.2172-24T>C	ENSP00000477455.1:n.2172-24T>C
ENST00000628166.1:n.432-24T>C
NM_000834.3:c.2172-24T>C	NP_000825.2:n.2172-24T>C
XM_005253351.2:c.-43-24T>C	XP_005253408.1:n.-43-24T>C
XM_011520628.1:c.2172-24T>C	XP_011518930.1:n.2172-24T>C
XM_011520629.1:c.2172-24T>C	XP_011518931.1:n.2172-24T>C
XM_011520630.1:c.2172-24T>C	XP_011518932.1:n.2172-24T>C
NM_000834.4:c.2172-24T>C	NP_000825.2:n.2172-24T>C
XM_005253351.3:c.-43-24T>C	XP_005253408.1:n.-43-24T>C
XM_011520628.2:c.2172-24T>C	XP_011518930.1:n.2172-24T>C
XM_011520629.2:c.2172-24T>C	XP_011518931.1:n.2172-24T>C
XM_017019219.2:c.2172-24T>C	XP_016874708.1:n.2172-24T>C
NM_000834.5:c.2172-24T>C MANE Select	NP_000825.2:n.2172-24T>C