Canonical Allele Identifier: CA384053903

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13753655-T-G
• MyVariant Identifiers: chr12:g.13906589T>G (hg19) ; chr12:g.13753655T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753655T>G , CM000674.2:g.13753655T>G	GRCh38
NC_000012.11:g.13906589T>G , CM000674.1:g.13906589T>G	GRCh37
NC_000012.10:g.13797856T>G	NCBI36
NG_031854.1:g.231434A>C
NG_031854.2:g.233358A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.672A>C MANE Select	ENSP00000477455.1:p.Gln224His
ENST00000630791.2:c.672A>C	ENSP00000486677.2:p.Gln224His
ENST00000609686.3:c.672A>C	ENSP00000477455.1:p.Gln224His
NM_000834.3:c.672A>C	NP_000825.2:p.Gln224His
XM_011520628.1:c.672A>C	XP_011518930.1:p.Gln224His
XM_011520629.1:c.672A>C	XP_011518931.1:p.Gln224His
XM_011520630.1:c.672A>C	XP_011518932.1:p.Gln224His
NM_000834.4:c.672A>C	NP_000825.2:p.Gln224His
XM_011520628.2:c.672A>C	XP_011518930.1:p.Gln224His
XM_011520629.2:c.672A>C	XP_011518931.1:p.Gln224His
XM_017019219.2:c.672A>C	XP_016874708.1:p.Gln224His
NM_000834.5:c.672A>C MANE Select	NP_000825.2:p.Gln224His