Canonical Allele Identifier: CA10652253
Gene: RNASEH2A HGNC NCBI
THSD8 HGNC NCBI
HOOK2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.12810412G>A
GRCh37 chr19:g.12921226G>A
gnomAD v3:
19:12810412 G / A
gnomAD v4:
chr19-12810412-G-A
Joint Max Group AF 0.00002478 (NFE)
Exomes Max Group AF 0.00002544 (NFE)
ClinVar Allele:
349394
ClinVar RCV:
RCV000272125
ClinVar Variation:
328292
dbSNP:
757139110
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12810412G>A , CM000681.2:g.12810412G>A GRCh38
NC_000019.9:g.12921226G>A , CM000681.1:g.12921226G>A GRCh37
NC_000019.8:g.12782226G>A NCBI36
NG_012662.1:g.8799G>A , LRG_278:g.8799G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221486.6:c.637+8G>A (RNASEH2A) MANE Select ENSP00000221486.4:n.637+8G>A
ENST00000593017.2:n.923+8G>A (RNASEH2A)
ENST00000639767.2:c.*516+8G>A (THSD8) ENSP00000491410.2:n.*516+8G>A
ENST00000643757.1:n.672+8G>A (RNASEH2A)
ENST00000646769.1:c.*297+8G>A (RNASEH2A) ENSP00000495175.1:n.*297+8G>A
ENST00000221486.4:c.637+8G>A (RNASEH2A) ENSP00000221486.3:n.637+8G>A
ENST00000589765.1:n.41+14766C>T (HOOK2)
ENST00000593017.1:n.1052+8G>A (RNASEH2A)
NM_006397.2:c.637+8G>A , LRG_278t1:c.637+8G>A (RNASEH2A) NP_006388.2:n.637+8G>A
XM_006722619.2:c.505+8G>A (RNASEH2A) XP_006722682.1:n.505+8G>A
NM_006397.3:c.637+8G>A (RNASEH2A) MANE Select NP_006388.2:n.637+8G>A
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