Canonical Allele Identifier: CA9232064

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12813423G>A , CM000681.2:g.12813423G>A	GRCh38
NC_000019.9:g.12924237G>A , CM000681.1:g.12924237G>A	GRCh37
NC_000019.8:g.12785237G>A	NCBI36
NG_012662.1:g.11810G>A , LRG_278:g.11810G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.857G>A (RNASEH2A) MANE Select	NP_006388.2:p.Arg286Gln
ENST00000221486.6:c.857G>A (RNASEH2A) MANE Select	ENSP00000221486.4:p.Arg286Gln
NM_006397.2:c.857G>A , LRG_278t1:c.857G>A (RNASEH2A)	NP_006388.2:p.Arg286Gln
ENST00000221486.4:c.857G>A (RNASEH2A)	ENSP00000221486.3:p.Arg286Gln
ENST00000589765.1:n.41+11755C>T (HOOK2)
ENST00000593017.1:n.1272G>A (RNASEH2A)
ENST00000593017.2:n.1143G>A (RNASEH2A)
ENST00000639767.2:c.*736G>A (THSD8)	ENSP00000491410.2:n.*736G>A
ENST00000643757.1:n.892G>A (RNASEH2A)
XM_006722619.2:c.725G>A (RNASEH2A)	XP_006722682.1:p.Arg242Gln