Canonical Allele Identifier: CA384051285

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13761731T>G (hg19) ; chr12:g.13608797T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608797T>G , CM000674.2:g.13608797T>G	GRCh38
NC_000012.11:g.13761731T>G , CM000674.1:g.13761731T>G	GRCh37
NC_000012.10:g.13652998T>G	NCBI36
NG_031854.1:g.376292A>C
NG_031854.2:g.378216A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1816A>C MANE Select	ENSP00000477455.1:p.Ile606Leu
ENST00000628166.2:n.76A>C
ENST00000609686.3:c.1816A>C	ENSP00000477455.1:p.Ile606Leu
ENST00000628166.1:n.76A>C
NM_000834.3:c.1816A>C	NP_000825.2:p.Ile606Leu
XM_011520628.1:c.1816A>C	XP_011518930.1:p.Ile606Leu
XM_011520629.1:c.1816A>C	XP_011518931.1:p.Ile606Leu
XM_011520630.1:c.1816A>C	XP_011518932.1:p.Ile606Leu
XR_931372.1:n.179-6301T>G
XR_931373.1:n.318+40T>G
NM_000834.4:c.1816A>C	NP_000825.2:p.Ile606Leu
XM_011520628.2:c.1816A>C	XP_011518930.1:p.Ile606Leu
XM_011520629.2:c.1816A>C	XP_011518931.1:p.Ile606Leu
XM_017019219.2:c.1816A>C	XP_016874708.1:p.Ile606Leu
XR_001749013.1:n.457+40T>G
XR_931372.2:n.316-6301T>G
XR_931373.2:n.457+40T>G
NM_000834.5:c.1816A>C MANE Select	NP_000825.2:p.Ile606Leu