Canonical Allele Identifier: CA384052071

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13768446C>G (hg19) ; chr12:g.13615512C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615512C>G , CM000674.2:g.13615512C>G	GRCh38
NC_000012.11:g.13768446C>G , CM000674.1:g.13768446C>G	GRCh37
NC_000012.10:g.13659713C>G	NCBI36
NG_031854.1:g.369577G>C
NG_031854.2:g.371501G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1481G>C MANE Select	ENSP00000477455.1:p.Trp494Ser
ENST00000609686.3:c.1481G>C	ENSP00000477455.1:p.Trp494Ser
NM_000834.3:c.1481G>C	NP_000825.2:p.Trp494Ser
XM_011520628.1:c.1481G>C	XP_011518930.1:p.Trp494Ser
XM_011520629.1:c.1481G>C	XP_011518931.1:p.Trp494Ser
XM_011520630.1:c.1481G>C	XP_011518932.1:p.Trp494Ser
XR_931372.1:n.307+286C>G
XR_931373.1:n.447+286C>G
XR_931374.1:n.246+286C>G
NM_000834.4:c.1481G>C	NP_000825.2:p.Trp494Ser
XM_011520628.2:c.1481G>C	XP_011518930.1:p.Trp494Ser
XM_011520629.2:c.1481G>C	XP_011518931.1:p.Trp494Ser
XM_017019219.2:c.1481G>C	XP_016874708.1:p.Trp494Ser
XR_001749013.1:n.728+286C>G
XR_931372.2:n.444+286C>G
XR_931373.2:n.586+286C>G
NM_000834.5:c.1481G>C MANE Select	NP_000825.2:p.Trp494Ser