Canonical Allele Identifier: CA478772846

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13615250-G-A
• MyVariant Identifiers: chr12:g.13768184G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615250G>A , CM000674.2:g.13615250G>A	GRCh38
NC_000012.11:g.13768184G>A , CM000674.1:g.13768184G>A	GRCh37
NC_000012.10:g.13659451G>A	NCBI36
NG_031854.1:g.369839C>T
NG_031854.2:g.371763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1518C>T MANE Select	ENSP00000477455.1:p.Ala506=
ENST00000609686.3:c.1518C>T	ENSP00000477455.1:p.Ala506=
NM_000834.3:c.1518C>T	NP_000825.2:p.Ala506=
XM_011520628.1:c.1518C>T	XP_011518930.1:p.Ala506=
XM_011520629.1:c.1518C>T	XP_011518931.1:p.Ala506=
XM_011520630.1:c.1518C>T	XP_011518932.1:p.Ala506=
XR_931372.1:n.307+24G>A
XR_931373.1:n.447+24G>A
XR_931374.1:n.246+24G>A
NM_000834.4:c.1518C>T	NP_000825.2:p.Ala506=
XM_011520628.2:c.1518C>T	XP_011518930.1:p.Ala506=
XM_011520629.2:c.1518C>T	XP_011518931.1:p.Ala506=
XM_017019219.2:c.1518C>T	XP_016874708.1:p.Ala506=
XR_001749013.1:n.728+24G>A
XR_931372.2:n.444+24G>A
XR_931373.2:n.586+24G>A
NM_000834.5:c.1518C>T MANE Select	NP_000825.2:p.Ala506=