Canonical Allele Identifier: CA384052414

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13615659-T-G
• MyVariant Identifiers: chr12:g.13768593T>G (hg19) ; chr12:g.13615659T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615659T>G , CM000674.2:g.13615659T>G	GRCh38
NC_000012.11:g.13768593T>G , CM000674.1:g.13768593T>G	GRCh37
NC_000012.10:g.13659860T>G	NCBI36
NG_031854.1:g.369430A>C
NG_031854.2:g.371354A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1334A>C MANE Select	ENSP00000477455.1:p.Lys445Thr
ENST00000630791.2:c.1334A>C	ENSP00000486677.2:p.Lys445Thr
ENST00000609686.3:c.1334A>C	ENSP00000477455.1:p.Lys445Thr
NM_000834.3:c.1334A>C	NP_000825.2:p.Lys445Thr
XM_011520628.1:c.1334A>C	XP_011518930.1:p.Lys445Thr
XM_011520629.1:c.1334A>C	XP_011518931.1:p.Lys445Thr
XM_011520630.1:c.1334A>C	XP_011518932.1:p.Lys445Thr
XR_931372.1:n.307+433T>G
XR_931373.1:n.447+433T>G
XR_931374.1:n.246+433T>G
NM_000834.4:c.1334A>C	NP_000825.2:p.Lys445Thr
XM_011520628.2:c.1334A>C	XP_011518930.1:p.Lys445Thr
XM_011520629.2:c.1334A>C	XP_011518931.1:p.Lys445Thr
XM_017019219.2:c.1334A>C	XP_016874708.1:p.Lys445Thr
XR_001749013.1:n.728+433T>G
XR_931372.2:n.444+433T>G
XR_931373.2:n.586+433T>G
NM_000834.5:c.1334A>C MANE Select	NP_000825.2:p.Lys445Thr