Canonical Allele Identifier: CA404268673

Gene: RNASEH2A THSD8 HOOK2

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12813081A>G , CM000681.2:g.12813081A>G	GRCh38
NC_000019.9:g.12923895A>G , CM000681.1:g.12923895A>G	GRCh37
NC_000019.8:g.12784895A>G	NCBI36
NG_012662.1:g.11468A>G , LRG_278:g.11468A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006397.3:c.638-2A>G (RNASEH2A) MANE Select	NP_006388.2:n.638-2A>G
ENST00000221486.6:c.638-2A>G (RNASEH2A) MANE Select	ENSP00000221486.4:n.638-2A>G
NM_006397.2:c.638-2A>G , LRG_278t1:c.638-2A>G (RNASEH2A)	NP_006388.2:n.638-2A>G
ENST00000221486.4:c.638-2A>G (RNASEH2A)	ENSP00000221486.3:n.638-2A>G
ENST00000589765.1:n.41+12097T>C (HOOK2)
ENST00000593017.1:n.1053-2A>G (RNASEH2A)
ENST00000593017.2:n.924-2A>G (RNASEH2A)
ENST00000639767.2:c.*517-2A>G (THSD8)	ENSP00000491410.2:n.*517-2A>G
ENST00000643757.1:n.673-2A>G (RNASEH2A)
ENST00000646769.1:c.*298-2A>G (RNASEH2A)	ENSP00000495175.1:n.*298-2A>G
XM_006722619.2:c.506-2A>G (RNASEH2A)	XP_006722682.1:n.506-2A>G