Canonical Allele Identifier: CA6460958

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2642747
• ClinVar RCV Id: RCV003396250
• dbSNP Id: rs760531029
• ExAC: 12:13717175 G / A
• gnomAD v2: 12-13717175-G-A
• gnomAD v4: 12-13564241-G-A
• COSMIC: COSM4485947
• MyVariant Identifiers: chr12:g.13717175G>A (hg19) ; chr12:g.13564241G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564241G>A , CM000674.2:g.13564241G>A	GRCh38
NC_000012.11:g.13717175G>A , CM000674.1:g.13717175G>A	GRCh37
NC_000012.10:g.13608442G>A	NCBI36
NG_031854.1:g.420848C>T
NG_031854.2:g.422772C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2997C>T MANE Select	ENSP00000477455.1:p.Ser999=
ENST00000637214.1:c.69+44362C>T	ENSP00000489997.1:n.69+44362C>T
ENST00000609686.3:c.2997C>T	ENSP00000477455.1:p.Ser999=
ENST00000628166.1:n.1257C>T
NM_000834.3:c.2997C>T	NP_000825.2:p.Ser999=
XM_005253351.2:c.783C>T	XP_005253408.1:p.Ser261=
XM_011520628.1:c.2997C>T	XP_011518930.1:p.Ser999=
XM_011520629.1:c.2997C>T	XP_011518931.1:p.Ser999=
XM_011520630.1:c.2997C>T	XP_011518932.1:p.Ser999=
NM_000834.4:c.2997C>T	NP_000825.2:p.Ser999=
XM_005253351.3:c.783C>T	XP_005253408.1:p.Ser261=
XM_011520628.2:c.2997C>T	XP_011518930.1:p.Ser999=
XM_011520629.2:c.2997C>T	XP_011518931.1:p.Ser999=
XM_017019219.2:c.2997C>T	XP_016874708.1:p.Ser999=
NM_000834.5:c.2997C>T MANE Select	NP_000825.2:p.Ser999=