Canonical Allele Identifier: CA384052194

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13768500T>A (hg19) ; chr12:g.13615566T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615566T>A , CM000674.2:g.13615566T>A	GRCh38
NC_000012.11:g.13768500T>A , CM000674.1:g.13768500T>A	GRCh37
NC_000012.10:g.13659767T>A	NCBI36
NG_031854.1:g.369523A>T
NG_031854.2:g.371447A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1427A>T MANE Select	ENSP00000477455.1:p.Tyr476Phe
ENST00000609686.3:c.1427A>T	ENSP00000477455.1:p.Tyr476Phe
NM_000834.3:c.1427A>T	NP_000825.2:p.Tyr476Phe
XM_011520628.1:c.1427A>T	XP_011518930.1:p.Tyr476Phe
XM_011520629.1:c.1427A>T	XP_011518931.1:p.Tyr476Phe
XM_011520630.1:c.1427A>T	XP_011518932.1:p.Tyr476Phe
XR_931372.1:n.307+340T>A
XR_931373.1:n.447+340T>A
XR_931374.1:n.246+340T>A
NM_000834.4:c.1427A>T	NP_000825.2:p.Tyr476Phe
XM_011520628.2:c.1427A>T	XP_011518930.1:p.Tyr476Phe
XM_011520629.2:c.1427A>T	XP_011518931.1:p.Tyr476Phe
XM_017019219.2:c.1427A>T	XP_016874708.1:p.Tyr476Phe
XR_001749013.1:n.728+340T>A
XR_931372.2:n.444+340T>A
XR_931373.2:n.586+340T>A
NM_000834.5:c.1427A>T MANE Select	NP_000825.2:p.Tyr476Phe