Canonical Allele Identifier: CA383998203

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13722878C>G (hg19) ; chr12:g.13569944C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13569944C>G , CM000674.2:g.13569944C>G	GRCh38
NC_000012.11:g.13722878C>G , CM000674.1:g.13722878C>G	GRCh37
NC_000012.10:g.13614145C>G	NCBI36
NG_031854.1:g.415145G>C
NG_031854.2:g.417069G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2245G>C MANE Select	ENSP00000477455.1:p.Val749Leu
ENST00000628166.2:n.505G>C
ENST00000637214.1:c.69+38659G>C	ENSP00000489997.1:n.69+38659G>C
ENST00000609686.3:c.2245G>C	ENSP00000477455.1:p.Val749Leu
ENST00000628166.1:n.505G>C
NM_000834.3:c.2245G>C	NP_000825.2:p.Val749Leu
XM_005253351.2:c.31G>C	XP_005253408.1:p.Val11Leu
XM_011520628.1:c.2245G>C	XP_011518930.1:p.Val749Leu
XM_011520629.1:c.2245G>C	XP_011518931.1:p.Val749Leu
XM_011520630.1:c.2245G>C	XP_011518932.1:p.Val749Leu
NM_000834.4:c.2245G>C	NP_000825.2:p.Val749Leu
XM_005253351.3:c.31G>C	XP_005253408.1:p.Val11Leu
XM_011520628.2:c.2245G>C	XP_011518930.1:p.Val749Leu
XM_011520629.2:c.2245G>C	XP_011518931.1:p.Val749Leu
XM_017019219.2:c.2245G>C	XP_016874708.1:p.Val749Leu
NM_000834.5:c.2245G>C MANE Select	NP_000825.2:p.Val749Leu