Canonical Allele Identifier: CA239198500
Gene: THAP2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.71677265A>C
GRCh37 chr12:g.72071045A>C
gnomAD v2:
12:72071045 A / C
gnomAD v3:
12:71677265 A / C
gnomAD v4:
chr12-71677265-A-C
Joint Max Group AF 0.00192253 (MID)
Genomes Max Group AF 0.00039245 (NFE)
Exomes Max Group AF 0.00224104 (MID)
dbSNP:
10748180
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Genomic Alleles

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

Transcript Alleles

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