Canonical Allele Identifier: CA384051960

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13768180T>C (hg19) ; chr12:g.13615246T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615246T>C , CM000674.2:g.13615246T>C	GRCh38
NC_000012.11:g.13768180T>C , CM000674.1:g.13768180T>C	GRCh37
NC_000012.10:g.13659447T>C	NCBI36
NG_031854.1:g.369843A>G
NG_031854.2:g.371767A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1522A>G MANE Select	ENSP00000477455.1:p.Met508Val
ENST00000609686.3:c.1522A>G	ENSP00000477455.1:p.Met508Val
NM_000834.3:c.1522A>G	NP_000825.2:p.Met508Val
XM_011520628.1:c.1522A>G	XP_011518930.1:p.Met508Val
XM_011520629.1:c.1522A>G	XP_011518931.1:p.Met508Val
XM_011520630.1:c.1522A>G	XP_011518932.1:p.Met508Val
XR_931372.1:n.307+20T>C
XR_931373.1:n.447+20T>C
XR_931374.1:n.246+20T>C
NM_000834.4:c.1522A>G	NP_000825.2:p.Met508Val
XM_011520628.2:c.1522A>G	XP_011518930.1:p.Met508Val
XM_011520629.2:c.1522A>G	XP_011518931.1:p.Met508Val
XM_017019219.2:c.1522A>G	XP_016874708.1:p.Met508Val
XR_001749013.1:n.728+20T>C
XR_931372.2:n.444+20T>C
XR_931373.2:n.586+20T>C
NM_000834.5:c.1522A>G MANE Select	NP_000825.2:p.Met508Val