Canonical Allele Identifier: CA9367595
Gene: PDCD2L HGNC NCBI
COSMIC:
COSM404333
MyVariant.info:
GRCh38 chr19:g.34404746C>T
GRCh37 chr19:g.34895651C>T
Revel Score:
ENST00000246535 (MANE Select) 0.237
gnomAD v2:
19:34895651 C / T
gnomAD v3:
19:34404746 C / T
gnomAD v4:
chr19-34404746-C-T
Joint Max Group AF 0.00038944 (SAS)
Genomes Max Group AF 0.00007867 (AFR)
Exomes Max Group AF 0.00039097 (SAS)
ClinVar RCV:
RCV004091856
ClinVar Variation:
2231376
dbSNP:
140108926
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.34404746C>T , CM000681.2:g.34404746C>T GRCh38
NC_000019.9:g.34895651C>T , CM000681.1:g.34895651C>T GRCh37
NC_000019.8:g.39587491C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000246535.4:c.206C>T MANE Select ENSP00000246535.1:p.Ser69Phe
ENST00000246535.3:c.206C>T ENSP00000246535.1:p.Ser69Phe
ENST00000587385.6:n.212C>T
ENST00000592740.5:c.291C>T
ENST00000606020.1:c.191C>T ENSP00000475682.1:p.Ser64Phe
NM_032346.1:c.206C>T NP_115722.1:p.Ser69Phe
NM_001353433.1:c.206C>T NP_001340362.1:p.Ser69Phe
NM_032346.2:c.206C>T MANE Select NP_115722.1:p.Ser69Phe
NM_001353433.2:c.206C>T NP_001340362.1:p.Ser69Phe
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