Canonical Allele Identifier: CA9232011

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12813148C>T , CM000681.2:g.12813148C>T	GRCh38
NC_000019.9:g.12923962C>T , CM000681.1:g.12923962C>T	GRCh37
NC_000019.8:g.12784962C>T	NCBI36
NG_012662.1:g.11535C>T , LRG_278:g.11535C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.703C>T (RNASEH2A) MANE Select	NP_006388.2:p.Arg235Trp
ENST00000221486.6:c.703C>T (RNASEH2A) MANE Select	ENSP00000221486.4:p.Arg235Trp
NM_006397.2:c.703C>T , LRG_278t1:c.703C>T (RNASEH2A)	NP_006388.2:p.Arg235Trp
ENST00000221486.4:c.703C>T (RNASEH2A)	ENSP00000221486.3:p.Arg235Trp
ENST00000589765.1:n.41+12030G>A (HOOK2)
ENST00000593017.1:n.1118C>T (RNASEH2A)
ENST00000593017.2:n.989C>T (RNASEH2A)
ENST00000639767.2:c.*582C>T (THSD8)	ENSP00000491410.2:n.*582C>T
ENST00000643757.1:n.738C>T (RNASEH2A)
ENST00000646769.1:c.*363C>T (RNASEH2A)	ENSP00000495175.1:n.*363C>T
XM_006722619.2:c.571C>T (RNASEH2A)	XP_006722682.1:p.Arg191Trp