Canonical Allele Identifier: CA9232019

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12813191C>T , CM000681.2:g.12813191C>T	GRCh38
NC_000019.9:g.12924005C>T , CM000681.1:g.12924005C>T	GRCh37
NC_000019.8:g.12785005C>T	NCBI36
NG_012662.1:g.11578C>T , LRG_278:g.11578C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.746C>T (RNASEH2A) MANE Select	NP_006388.2:p.Ala249Val
ENST00000221486.6:c.746C>T (RNASEH2A) MANE Select	ENSP00000221486.4:p.Ala249Val
NM_006397.2:c.746C>T , LRG_278t1:c.746C>T (RNASEH2A)	NP_006388.2:p.Ala249Val
ENST00000221486.4:c.746C>T (RNASEH2A)	ENSP00000221486.3:p.Ala249Val
ENST00000589765.1:n.41+11987G>A (HOOK2)
ENST00000593017.1:n.1161C>T (RNASEH2A)
ENST00000593017.2:n.1032C>T (RNASEH2A)
ENST00000639767.2:c.*625C>T (THSD8)	ENSP00000491410.2:n.*625C>T
ENST00000643757.1:n.781C>T (RNASEH2A)
ENST00000646769.1:c.*406C>T (RNASEH2A)	ENSP00000495175.1:n.*406C>T
XM_006722619.2:c.614C>T (RNASEH2A)	XP_006722682.1:p.Ala205Val