Canonical Allele Identifier: CA9232045

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12813345A>G , CM000681.2:g.12813345A>G	GRCh38
NC_000019.9:g.12924159A>G , CM000681.1:g.12924159A>G	GRCh37
NC_000019.8:g.12785159A>G	NCBI36
NG_012662.1:g.11732A>G , LRG_278:g.11732A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.779A>G (RNASEH2A) MANE Select	NP_006388.2:p.Glu260Gly
ENST00000221486.6:c.779A>G (RNASEH2A) MANE Select	ENSP00000221486.4:p.Glu260Gly
NM_006397.2:c.779A>G , LRG_278t1:c.779A>G (RNASEH2A)	NP_006388.2:p.Glu260Gly
ENST00000221486.4:c.779A>G (RNASEH2A)	ENSP00000221486.3:p.Glu260Gly
ENST00000589765.1:n.41+11833T>C (HOOK2)
ENST00000593017.1:n.1194A>G (RNASEH2A)
ENST00000593017.2:n.1065A>G (RNASEH2A)
ENST00000639767.2:c.*658A>G (THSD8)	ENSP00000491410.2:n.*658A>G
ENST00000643757.1:n.814A>G (RNASEH2A)
XM_006722619.2:c.647A>G (RNASEH2A)	XP_006722682.1:p.Glu216Gly