Canonical Allele Identifier: CA404268842

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12813102G>A , CM000681.2:g.12813102G>A	GRCh38
NC_000019.9:g.12923916G>A , CM000681.1:g.12923916G>A	GRCh37
NC_000019.8:g.12784916G>A	NCBI36
NG_012662.1:g.11489G>A , LRG_278:g.11489G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.657G>A (RNASEH2A) MANE Select	NP_006388.2:p.Trp219Ter
ENST00000221486.6:c.657G>A (RNASEH2A) MANE Select	ENSP00000221486.4:p.Trp219Ter
NM_006397.2:c.657G>A , LRG_278t1:c.657G>A (RNASEH2A)	NP_006388.2:p.Trp219Ter
ENST00000221486.4:c.657G>A (RNASEH2A)	ENSP00000221486.3:p.Trp219Ter
ENST00000589765.1:n.41+12076C>T (HOOK2)
ENST00000593017.1:n.1072G>A (RNASEH2A)
ENST00000593017.2:n.943G>A (RNASEH2A)
ENST00000639767.2:c.*536G>A (THSD8)	ENSP00000491410.2:n.*536G>A
ENST00000643757.1:n.692G>A (RNASEH2A)
ENST00000646769.1:c.*317G>A (RNASEH2A)	ENSP00000495175.1:n.*317G>A
XM_006722619.2:c.525G>A (RNASEH2A)	XP_006722682.1:p.Trp175Ter