Canonical Allele Identifier: CA404270021

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12813438G>T , CM000681.2:g.12813438G>T	GRCh38
NC_000019.9:g.12924252G>T , CM000681.1:g.12924252G>T	GRCh37
NC_000019.8:g.12785252G>T	NCBI36
NG_012662.1:g.11825G>T , LRG_278:g.11825G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221486.6:c.872G>T (RNASEH2A) MANE Select	ENSP00000221486.4:p.Arg291Leu
ENST00000593017.2:n.1158G>T (RNASEH2A)
ENST00000639767.2:c.*751G>T (THSD8)	ENSP00000491410.2:n.*751G>T
ENST00000643757.1:n.907G>T (RNASEH2A)
ENST00000221486.4:c.872G>T (RNASEH2A)	ENSP00000221486.3:p.Arg291Leu
ENST00000589765.1:n.41+11740C>A (HOOK2)
ENST00000593017.1:n.1287G>T (RNASEH2A)
NM_006397.2:c.872G>T , LRG_278t1:c.872G>T (RNASEH2A)	NP_006388.2:p.Arg291Leu
XM_006722619.2:c.740G>T (RNASEH2A)	XP_006722682.1:p.Arg247Leu
NM_006397.3:c.872G>T (RNASEH2A) MANE Select	NP_006388.2:p.Arg291Leu