Canonical Allele Identifier: CA9550636
Gene: GRIN2D HGNC NCBI

Linked Data

ClinVar Variation Id: 764037
ClinVar RCV Id: RCV000942338
dbSNP Id: rs139402101
ExAC: 19:48922999 C / T
gnomAD v2: 19-48922999-C-T
gnomAD v3: 19-48419742-C-T
gnomAD v4: 19-48419742-C-T
MyVariant Identifiers: chr19:g.48922999C>T (hg19) chr19:g.48419742C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48419742C>T , CM000681.2:g.48419742C>T GRCh38
NC_000019.9:g.48922999C>T , CM000681.1:g.48922999C>T GRCh37
NC_000019.8:g.53614811C>T NCBI36
NG_052829.1:g.29868C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263269.4:c.2019C>T MANE Select ENSP00000263269.2:p.Tyr673=
ENST00000263269.3:c.2019C>T ENSP00000263269.2:p.Tyr673=
NM_000836.2:c.2019C>T NP_000827.2:p.Tyr673=
XM_011526872.1:c.2019C>T XP_011525174.1:p.Tyr673=
NM_000836.4:c.2019C>T MANE Select NP_000827.2:p.Tyr673=
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