Canonical Allele Identifier: CA404263025

Gene: RNASEH2A THSD8 HOOK2

Linked Data

• gnomAD v4: 19-12806687-A-G
• MyVariant Identifiers: chr19:g.12917501A>G (hg19) ; chr19:g.12806687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12806687A>G , CM000681.2:g.12806687A>G	GRCh38
NC_000019.9:g.12917501A>G , CM000681.1:g.12917501A>G	GRCh37
NC_000019.8:g.12778501A>G	NCBI36
NG_012662.1:g.5074A>G , LRG_278:g.5074A>G
NG_029901.1:g.194T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000221486.6:c.14A>G (RNASEH2A) MANE Select	ENSP00000221486.4:p.Glu5Gly
ENST00000590121.2:c.11A>G (RNASEH2A)	ENSP00000495087.1:p.Glu4Gly
ENST00000590279.2:n.96A>G (RNASEH2A)
ENST00000593017.2:n.4A>G (RNASEH2A)
ENST00000639767.2:c.*7-321A>G (THSD8)	ENSP00000491410.2:n.*7-321A>G
ENST00000643364.1:n.698A>G (THSD8)
ENST00000646769.1:c.14A>G (RNASEH2A)	ENSP00000495175.1:p.Glu5Gly
ENST00000221486.4:c.14A>G (RNASEH2A)	ENSP00000221486.3:p.Glu5Gly
ENST00000589765.1:n.41+18491T>C (HOOK2)
ENST00000590121.1:n.11A>G (RNASEH2A)
ENST00000590279.1:n.4A>G (RNASEH2A)
ENST00000593017.1:n.96A>G (RNASEH2A)
NM_006397.2:c.14A>G , LRG_278t1:c.14A>G (RNASEH2A)	NP_006388.2:p.Glu5Gly
XM_006722619.2:c.-5-321A>G (RNASEH2A)	XP_006722682.1:n.-5-321A>G
NM_006397.3:c.14A>G (RNASEH2A) MANE Select	NP_006388.2:p.Glu5Gly