Canonical Allele Identifier: CA8542925
Gene: TOP2A HGNC NCBI
ClinVar RCV:
RCV004133955
ClinVar Variation:
2281352
dbSNP:
756026961
gnomAD v2:
17:38546381 T / C
gnomAD v3:
17:40390129 T / C
gnomAD v4:
chr17-40390129-T-C
Joint Max Group AF 0.00011661 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00011824 (NFE)
MyVariant.info:
GRCh38 chr17:g.40390129T>C
GRCh37 chr17:g.38546381T>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40390129T>C , CM000679.2:g.40390129T>C GRCh38
NC_000017.10:g.38546381T>C , CM000679.1:g.38546381T>C GRCh37
NC_000017.9:g.35799907T>C NCBI36
NG_027678.1:g.32822A>G
NG_027678.2:g.32822A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000423485.6:c.4303A>G MANE Select ENSP00000411532.1:p.Arg1435Gly
ENST00000423485.5:c.4303A>G ENSP00000411532.1:p.Arg1435Gly
ENST00000578412.1:n.632A>G
NM_001067.3:c.4303A>G NP_001058.2:p.Arg1435Gly
XM_005257632.1:c.4267A>G XP_005257689.1:p.Arg1423Gly
NM_001067.4:c.4303A>G MANE Select NP_001058.2:p.Arg1435Gly
Search 100 bp 5'
Search 100 bp 3'