Canonical Allele Identifier: CA404265443

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12807326G>A , CM000681.2:g.12807326G>A	GRCh38
NC_000019.9:g.12918140G>A , CM000681.1:g.12918140G>A	GRCh37
NC_000019.8:g.12779140G>A	NCBI36
NG_012662.1:g.5713G>A , LRG_278:g.5713G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.320G>A (RNASEH2A) MANE Select	NP_006388.2:p.Gly107Glu
ENST00000221486.6:c.320G>A (RNASEH2A) MANE Select	ENSP00000221486.4:p.Gly107Glu
NM_006397.2:c.320G>A , LRG_278t1:c.320G>A (RNASEH2A)	NP_006388.2:p.Gly107Glu
ENST00000221486.4:c.320G>A (RNASEH2A)	ENSP00000221486.3:p.Gly107Glu
ENST00000589765.1:n.41+17852C>T (HOOK2)
ENST00000590121.1:n.317G>A (RNASEH2A)
ENST00000590121.2:c.317G>A (RNASEH2A)	ENSP00000495087.1:p.Gly106Glu
ENST00000590279.1:n.517G>A (RNASEH2A)
ENST00000590279.2:n.735G>A (RNASEH2A)
ENST00000593017.1:n.735G>A (RNASEH2A)
ENST00000593017.2:n.517G>A (RNASEH2A)
ENST00000639767.2:c.*199G>A (THSD8)	ENSP00000491410.2:n.*199G>A
ENST00000643757.1:n.355G>A (RNASEH2A)
ENST00000646769.1:c.200-93G>A (RNASEH2A)	ENSP00000495175.1:n.200-93G>A
XM_006722619.2:c.188G>A (RNASEH2A)	XP_006722682.1:p.Gly63Glu