Canonical Allele Identifier: CA8543329
Gene: TOP2A HGNC NCBI
ClinVar RCV:
RCV000890315
RCV003957933
ClinVar Variation:
717511
dbSNP:
61732513
gnomAD v2:
17:38556902 T / C
gnomAD v3:
17:40400650 T / C
gnomAD v4:
chr17-40400650-T-C
Joint Max Group AF 0.00893121 (AFR)
Genomes Max Group AF 0.00877169 (AFR)
Exomes Max Group AF 0.00860077 (AFR)
MyVariant.info:
GRCh38 chr17:g.40400650T>C
GRCh37 chr17:g.38556902T>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40400650T>C , CM000679.2:g.40400650T>C GRCh38
NC_000017.10:g.38556902T>C , CM000679.1:g.38556902T>C GRCh37
NC_000017.9:g.35810428T>C NCBI36
NG_027678.1:g.22301A>G
NG_027678.2:g.22301A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000423485.6:c.2678A>G MANE Select ENSP00000411532.1:p.Lys893Arg
ENST00000423485.5:c.2678A>G ENSP00000411532.1:p.Lys893Arg
NM_001067.3:c.2678A>G NP_001058.2:p.Lys893Arg
XM_005257632.1:c.2642A>G XP_005257689.1:p.Lys881Arg
XM_011525165.1:c.2678A>G XP_011523467.1:p.Lys893Arg
XM_011525165.2:c.2678A>G XP_011523467.1:p.Lys893Arg
NM_001067.4:c.2678A>G MANE Select NP_001058.2:p.Lys893Arg
Search 100 bp 5'
Search 100 bp 3'