Canonical Allele Identifier: CA13670225
Gene: THAP2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.71677265A>G
GRCh37 chr12:g.72071045A>G
gnomAD v2:
12:72071045 A / G
gnomAD v3:
12:71677265 A / G
gnomAD v4:
chr12-71677265-A-G
Joint Max Group AF 0.81067328 (EAS)
Genomes Max Group AF 0.80637256 (EAS)
Exomes Max Group AF 0.80816558 (EAS)
dbSNP:
10748180
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.71677265A>G , CM000674.2:g.71677265A>G GRCh38
NC_000012.11:g.72071045A>G , CM000674.1:g.72071045A>G GRCh37
NC_000012.10:g.70357312A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000308086.3:c.*157A>G MANE Select ENSP00000310796.2:n.*157A>G
ENST00000308086.2:c.*157A>G ENSP00000310796.2:n.*157A>G
ENST00000548802.1:c.195+2867A>G ENSP00000454911.2:n.195+2867A>G
NM_031435.3:c.*157A>G NP_113623.1:n.*157A>G
NM_031435.4:c.*157A>G MANE Select NP_113623.1:n.*157A>G
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