Canonical Allele Identifier: CA404264727

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12807229G>T , CM000681.2:g.12807229G>T	GRCh38
NC_000019.9:g.12918043G>T , CM000681.1:g.12918043G>T	GRCh37
NC_000019.8:g.12779043G>T	NCBI36
NG_012662.1:g.5616G>T , LRG_278:g.5616G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.223G>T (RNASEH2A) MANE Select	NP_006388.2:p.Glu75Ter
ENST00000221486.6:c.223G>T (RNASEH2A) MANE Select	ENSP00000221486.4:p.Glu75Ter
NM_006397.2:c.223G>T , LRG_278t1:c.223G>T (RNASEH2A)	NP_006388.2:p.Glu75Ter
ENST00000221486.4:c.223G>T (RNASEH2A)	ENSP00000221486.3:p.Glu75Ter
ENST00000589765.1:n.41+17949C>A (HOOK2)
ENST00000590121.1:n.220G>T (RNASEH2A)
ENST00000590121.2:c.220G>T (RNASEH2A)	ENSP00000495087.1:p.Glu74Ter
ENST00000590279.1:n.420G>T (RNASEH2A)
ENST00000590279.2:n.638G>T (RNASEH2A)
ENST00000593017.1:n.638G>T (RNASEH2A)
ENST00000593017.2:n.420G>T (RNASEH2A)
ENST00000639767.2:c.*102G>T (THSD8)	ENSP00000491410.2:n.*102G>T
ENST00000643757.1:n.258G>T (RNASEH2A)
ENST00000646769.1:c.199+150G>T (RNASEH2A)	ENSP00000495175.1:n.199+150G>T
XM_006722619.2:c.91G>T (RNASEH2A)	XP_006722682.1:p.Glu31Ter