Canonical Allele Identifier: CA406697964
Gene: GRIN2D HGNC NCBI

Linked Data

ClinVar Variation Id: 3000273
ClinVar RCV Id: RCV003857448
dbSNP Id: rs1970993795
gnomAD v3: 19-48419662-G-A
gnomAD v4: 19-48419662-G-A
MyVariant Identifiers: chr19:g.48922919G>A (hg19) chr19:g.48419662G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48419662G>A , CM000681.2:g.48419662G>A GRCh38
NC_000019.9:g.48922919G>A , CM000681.1:g.48922919G>A GRCh37
NC_000019.8:g.53614731G>A NCBI36
NG_052829.1:g.29788G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263269.4:c.1939G>A MANE Select ENSP00000263269.2:p.Val647Met
ENST00000263269.3:c.1939G>A ENSP00000263269.2:p.Val647Met
NM_000836.2:c.1939G>A NP_000827.2:p.Val647Met
XM_011526872.1:c.1939G>A XP_011525174.1:p.Val647Met
NM_000836.4:c.1939G>A MANE Select NP_000827.2:p.Val647Met
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