Canonical Allele Identifier: CA404267237

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12810209G>T , CM000681.2:g.12810209G>T	GRCh38
NC_000019.9:g.12921023G>T , CM000681.1:g.12921023G>T	GRCh37
NC_000019.8:g.12782023G>T	NCBI36
NG_012662.1:g.8596G>T , LRG_278:g.8596G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.549+1G>T (RNASEH2A) MANE Select	NP_006388.2:n.549+1G>T
ENST00000221486.6:c.549+1G>T (RNASEH2A) MANE Select	ENSP00000221486.4:n.549+1G>T
NM_006397.2:c.549+1G>T , LRG_278t1:c.549+1G>T (RNASEH2A)	NP_006388.2:n.549+1G>T
ENST00000221486.4:c.549+1G>T (RNASEH2A)	ENSP00000221486.3:n.549+1G>T
ENST00000589765.1:n.41+14969C>A (HOOK2)
ENST00000593017.1:n.964+1G>T (RNASEH2A)
ENST00000593017.2:n.835+1G>T (RNASEH2A)
ENST00000639767.2:c.*428+1G>T (THSD8)	ENSP00000491410.2:n.*428+1G>T
ENST00000643757.1:n.584+1G>T (RNASEH2A)
ENST00000646769.1:c.*209+1G>T (RNASEH2A)	ENSP00000495175.1:n.*209+1G>T
XM_006722619.2:c.417+1G>T (RNASEH2A)	XP_006722682.1:n.417+1G>T