Canonical Allele Identifier: CA6461253

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 379835
• ClinVar RCV Id: RCV000866098 ; RCV001311290 ; RCV002318403 ; RCV001821164
• dbSNP Id: rs142935139
• ExAC: 12:13768571 G / A
• gnomAD v2: 12-13768571-G-A
• gnomAD v3: 12-13615637-G-A
• gnomAD v4: 12-13615637-G-A
• MyVariant Identifiers: chr12:g.13768571G>A (hg19) ; chr12:g.13615637G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615637G>A , CM000674.2:g.13615637G>A	GRCh38
NC_000012.11:g.13768571G>A , CM000674.1:g.13768571G>A	GRCh37
NC_000012.10:g.13659838G>A	NCBI36
NG_031854.1:g.369452C>T
NG_031854.2:g.371376C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1356C>T MANE Select	ENSP00000477455.1:p.Tyr452=
ENST00000630791.2:c.1356C>T	ENSP00000486677.2:p.Tyr452=
ENST00000609686.3:c.1356C>T	ENSP00000477455.1:p.Tyr452=
NM_000834.3:c.1356C>T	NP_000825.2:p.Tyr452=
XM_011520628.1:c.1356C>T	XP_011518930.1:p.Tyr452=
XM_011520629.1:c.1356C>T	XP_011518931.1:p.Tyr452=
XM_011520630.1:c.1356C>T	XP_011518932.1:p.Tyr452=
XR_931372.1:n.307+411G>A
XR_931373.1:n.447+411G>A
XR_931374.1:n.246+411G>A
NM_000834.4:c.1356C>T	NP_000825.2:p.Tyr452=
XM_011520628.2:c.1356C>T	XP_011518930.1:p.Tyr452=
XM_011520629.2:c.1356C>T	XP_011518931.1:p.Tyr452=
XM_017019219.2:c.1356C>T	XP_016874708.1:p.Tyr452=
XR_001749013.1:n.728+411G>A
XR_931372.2:n.444+411G>A
XR_931373.2:n.586+411G>A
NM_000834.5:c.1356C>T MANE Select	NP_000825.2:p.Tyr452=