Canonical Allele Identifier: CA9197599
Gene: CDKN2D HGNC NCBI
COSMIC:
COSM3749455 (not active)
MyVariant.info:
GRCh38 chr19:g.10568564C>G
GRCh37 chr19:g.10679240C>G
gnomAD v2:
19:10679240 C / G
gnomAD v3:
19:10568564 C / G
gnomAD v4:
chr19-10568564-C-G
Joint Max Group AF 0.99093055 (EAS)
Genomes Max Group AF 0.98190687 (AFR)
Exomes Max Group AF 0.99033503 (EAS)
dbSNP:
1968445
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.10568564C>G , CM000681.2:g.10568564C>G GRCh38
NC_000019.9:g.10679240C>G , CM000681.1:g.10679240C>G GRCh37
NC_000019.8:g.10540240C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393599.3:c.90G>C MANE Select ENSP00000377224.1:p.Arg30=
ENST00000335766.2:c.90G>C ENSP00000337056.1:p.Arg30=
ENST00000393599.2:c.90G>C ENSP00000377224.1:p.Arg30=
NM_001800.4:c.90G>C MANE Select NP_001791.1:p.Arg30=
NM_079421.3:c.90G>C NP_524145.1:p.Arg30=
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