Canonical Allele Identifier: CA8543385
Gene: TOP2A HGNC NCBI
ClinVar RCV:
RCV004468045
ClinVar Variation:
3181178
dbSNP:
748850219
gnomAD v2:
17:38559212 C / T
gnomAD v4:
chr17-40402960-C-T
Joint Max Group AF 0.00006572 (NFE)
Exomes Max Group AF 0.00006975 (NFE)
MyVariant.info:
GRCh38 chr17:g.40402960C>T
GRCh37 chr17:g.38559212C>T
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40402960C>T , CM000679.2:g.40402960C>T GRCh38
NC_000017.10:g.38559212C>T , CM000679.1:g.38559212C>T GRCh37
NC_000017.9:g.35812738C>T NCBI36
NG_027678.1:g.19991G>A
NG_027678.2:g.19991G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000423485.6:c.2378G>A MANE Select ENSP00000411532.1:p.Arg793Lys
ENST00000423485.5:c.2378G>A ENSP00000411532.1:p.Arg793Lys
NM_001067.3:c.2378G>A NP_001058.2:p.Arg793Lys
XM_005257632.1:c.2342G>A XP_005257689.1:p.Arg781Lys
XM_011525165.1:c.2378G>A XP_011523467.1:p.Arg793Lys
XM_011525165.2:c.2378G>A XP_011523467.1:p.Arg793Lys
NM_001067.4:c.2378G>A MANE Select NP_001058.2:p.Arg793Lys
Search 100 bp 5'
Search 100 bp 3'