Canonical Allele Identifier: CA9231903

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12810106C>A , CM000681.2:g.12810106C>A	GRCh38
NC_000019.9:g.12920920C>A , CM000681.1:g.12920920C>A	GRCh37
NC_000019.8:g.12781920C>A	NCBI36
NG_012662.1:g.8493C>A , LRG_278:g.8493C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.447C>A (RNASEH2A) MANE Select	NP_006388.2:p.Tyr149Ter
ENST00000221486.6:c.447C>A (RNASEH2A) MANE Select	ENSP00000221486.4:p.Tyr149Ter
NM_006397.2:c.447C>A , LRG_278t1:c.447C>A (RNASEH2A)	NP_006388.2:p.Tyr149Ter
ENST00000221486.4:c.447C>A (RNASEH2A)	ENSP00000221486.3:p.Tyr149Ter
ENST00000589765.1:n.41+15072G>T (HOOK2)
ENST00000593017.1:n.862C>A (RNASEH2A)
ENST00000593017.2:n.733C>A (RNASEH2A)
ENST00000639767.2:c.*326C>A (THSD8)	ENSP00000491410.2:n.*326C>A
ENST00000643757.1:n.482C>A (RNASEH2A)
ENST00000646769.1:c.*107C>A (RNASEH2A)	ENSP00000495175.1:n.*107C>A
XM_006722619.2:c.315C>A (RNASEH2A)	XP_006722682.1:p.Tyr105Ter