Canonical Allele Identifier: CA404264545

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12807205G>T , CM000681.2:g.12807205G>T	GRCh38
NC_000019.9:g.12918019G>T , CM000681.1:g.12918019G>T	GRCh37
NC_000019.8:g.12779019G>T	NCBI36
NG_012662.1:g.5592G>T , LRG_278:g.5592G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.200-1G>T (RNASEH2A) MANE Select	NP_006388.2:n.200-1G>T
ENST00000221486.6:c.200-1G>T (RNASEH2A) MANE Select	ENSP00000221486.4:n.200-1G>T
NM_006397.2:c.200-1G>T , LRG_278t1:c.200-1G>T (RNASEH2A)	NP_006388.2:n.200-1G>T
ENST00000221486.4:c.200-1G>T (RNASEH2A)	ENSP00000221486.3:n.200-1G>T
ENST00000589765.1:n.41+17973C>A (HOOK2)
ENST00000590121.1:n.197-1G>T (RNASEH2A)
ENST00000590121.2:c.197-1G>T (RNASEH2A)	ENSP00000495087.1:n.197-1G>T
ENST00000590279.1:n.397-1G>T (RNASEH2A)
ENST00000590279.2:n.614G>T (RNASEH2A)
ENST00000593017.1:n.614G>T (RNASEH2A)
ENST00000593017.2:n.397-1G>T (RNASEH2A)
ENST00000639767.2:c.*79-1G>T (THSD8)	ENSP00000491410.2:n.*79-1G>T
ENST00000643757.1:n.235-1G>T (RNASEH2A)
ENST00000646769.1:c.199+126G>T (RNASEH2A)	ENSP00000495175.1:n.199+126G>T
XM_006722619.2:c.68-1G>T (RNASEH2A)	XP_006722682.1:n.68-1G>T