Canonical Allele Identifier: CA9232024
Gene: RNASEH2A HGNC NCBI
THSD8 HGNC NCBI
HOOK2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.12813203T>C
GRCh37 chr19:g.12924017T>C
Revel Score:
ENST00000221486 (MANE Select) 0.131
gnomAD v2:
19:12924017 T / C
gnomAD v3:
19:12813203 T / C
gnomAD v4:
chr19-12813203-T-C
Joint Max Group AF 0.00201289 (AFR)
Genomes Max Group AF 0.00224766 (AFR)
Exomes Max Group AF 0.00148242 (AFR)
ClinVar RCV:
RCV000967301
ClinVar Variation:
328295
dbSNP:
145662304
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12813203T>C , CM000681.2:g.12813203T>C GRCh38
NC_000019.9:g.12924017T>C , CM000681.1:g.12924017T>C GRCh37
NC_000019.8:g.12785017T>C NCBI36
NG_012662.1:g.11590T>C , LRG_278:g.11590T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000221486.6:c.758T>C (RNASEH2A) MANE Select ENSP00000221486.4:p.Ile253Thr
ENST00000593017.2:n.1044T>C (RNASEH2A)
ENST00000639767.2:c.*637T>C (THSD8) ENSP00000491410.2:n.*637T>C
ENST00000643757.1:n.793T>C (RNASEH2A)
ENST00000646769.1:c.*418T>C (RNASEH2A) ENSP00000495175.1:n.*418T>C
ENST00000221486.4:c.758T>C (RNASEH2A) ENSP00000221486.3:p.Ile253Thr
ENST00000589765.1:n.41+11975A>G (HOOK2)
ENST00000593017.1:n.1173T>C (RNASEH2A)
NM_006397.2:c.758T>C , LRG_278t1:c.758T>C (RNASEH2A) NP_006388.2:p.Ile253Thr
XM_006722619.2:c.626T>C (RNASEH2A) XP_006722682.1:p.Ile209Thr
NM_006397.3:c.758T>C (RNASEH2A) MANE Select NP_006388.2:p.Ile253Thr
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