Canonical Allele Identifier: CA404269947

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12813425T>C , CM000681.2:g.12813425T>C	GRCh38
NC_000019.9:g.12924239T>C , CM000681.1:g.12924239T>C	GRCh37
NC_000019.8:g.12785239T>C	NCBI36
NG_012662.1:g.11812T>C , LRG_278:g.11812T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.859T>C (RNASEH2A) MANE Select	NP_006388.2:p.Tyr287His
ENST00000221486.6:c.859T>C (RNASEH2A) MANE Select	ENSP00000221486.4:p.Tyr287His
NM_006397.2:c.859T>C , LRG_278t1:c.859T>C (RNASEH2A)	NP_006388.2:p.Tyr287His
ENST00000221486.4:c.859T>C (RNASEH2A)	ENSP00000221486.3:p.Tyr287His
ENST00000589765.1:n.41+11753A>G (HOOK2)
ENST00000593017.1:n.1274T>C (RNASEH2A)
ENST00000593017.2:n.1145T>C (RNASEH2A)
ENST00000639767.2:c.*738T>C (THSD8)	ENSP00000491410.2:n.*738T>C
ENST00000643757.1:n.894T>C (RNASEH2A)
XM_006722619.2:c.727T>C (RNASEH2A)	XP_006722682.1:p.Tyr243His