Canonical Allele Identifier: CA9550633
Gene: GRIN2D HGNC NCBI

Linked Data

ClinVar Variation Id: 727458
ClinVar RCV Id: RCV000901799 RCV003950585
dbSNP Id: rs150885362
ExAC: 19:48922978 C / T
gnomAD v2: 19-48922978-C-T
gnomAD v3: 19-48419721-C-T
gnomAD v4: 19-48419721-C-T
MyVariant Identifiers: chr19:g.48922978C>T (hg19) chr19:g.48419721C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48419721C>T , CM000681.2:g.48419721C>T GRCh38
NC_000019.9:g.48922978C>T , CM000681.1:g.48922978C>T GRCh37
NC_000019.8:g.53614790C>T NCBI36
NG_052829.1:g.29847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263269.4:c.1998C>T MANE Select ENSP00000263269.2:p.Ala666=
ENST00000263269.3:c.1998C>T ENSP00000263269.2:p.Ala666=
NM_000836.2:c.1998C>T NP_000827.2:p.Ala666=
XM_011526872.1:c.1998C>T XP_011525174.1:p.Ala666=
NM_000836.4:c.1998C>T MANE Select NP_000827.2:p.Ala666=
Search 100 bp 5'
Search 100 bp 3'