Canonical Allele Identifier: CA345502
Gene: RNASEH2A HGNC NCBI
THSD8 HGNC NCBI
HOOK2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.12813164C>T
GRCh37 chr19:g.12923978C>T
Revel Score:
ENST00000221486 (MANE Select) 0.930
gnomAD v2:
19:12923978 C / T
gnomAD v3:
19:12813164 C / T
gnomAD v4:
chr19-12813164-C-T
Joint Max Group AF 0.00001962 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00002375 (AFR)
ClinVar RCV:
RCV000114341
ClinVar Variation:
126400
dbSNP:
79843600
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12813164C>T , CM000681.2:g.12813164C>T GRCh38
NC_000019.9:g.12923978C>T , CM000681.1:g.12923978C>T GRCh37
NC_000019.8:g.12784978C>T NCBI36
NG_012662.1:g.11551C>T , LRG_278:g.11551C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000221486.6:c.719C>T (RNASEH2A) MANE Select ENSP00000221486.4:p.Thr240Met
ENST00000593017.2:n.1005C>T (RNASEH2A)
ENST00000639767.2:c.*598C>T (THSD8) ENSP00000491410.2:n.*598C>T
ENST00000643757.1:n.754C>T (RNASEH2A)
ENST00000646769.1:c.*379C>T (RNASEH2A) ENSP00000495175.1:n.*379C>T
ENST00000221486.4:c.719C>T (RNASEH2A) ENSP00000221486.3:p.Thr240Met
ENST00000589765.1:n.41+12014G>A (HOOK2)
ENST00000593017.1:n.1134C>T (RNASEH2A)
NM_006397.2:c.719C>T , LRG_278t1:c.719C>T (RNASEH2A) NP_006388.2:p.Thr240Met
XM_006722619.2:c.587C>T (RNASEH2A) XP_006722682.1:p.Thr196Met
NM_006397.3:c.719C>T (RNASEH2A) MANE Select NP_006388.2:p.Thr240Met
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