Canonical Allele Identifier: CA404263561

Gene: RNASEH2A THSD8 HOOK2

Linked Data

• ClinVar Variation Id: 1488430
• ClinVar RCV Id: RCV001988576
• dbSNP Id: rs2145824177
• MyVariant Identifiers: chr19:g.12917600G>A (hg19) ; chr19:g.12806786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12806786G>A , CM000681.2:g.12806786G>A	GRCh38
NC_000019.9:g.12917600G>A , CM000681.1:g.12917600G>A	GRCh37
NC_000019.8:g.12778600G>A	NCBI36
NG_012662.1:g.5173G>A , LRG_278:g.5173G>A
NG_029901.1:g.95C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000221486.6:c.113G>A (RNASEH2A) MANE Select	ENSP00000221486.4:p.Arg38Lys
ENST00000590121.2:c.110G>A (RNASEH2A)	ENSP00000495087.1:p.Arg37Lys
ENST00000590279.2:n.195G>A (RNASEH2A)
ENST00000593017.2:n.103G>A (RNASEH2A)
ENST00000639767.2:c.*7-222G>A (THSD8)	ENSP00000491410.2:n.*7-222G>A
ENST00000643364.1:n.797G>A (THSD8)
ENST00000646769.1:c.113G>A (RNASEH2A)	ENSP00000495175.1:p.Arg38Lys
ENST00000221486.4:c.113G>A (RNASEH2A)	ENSP00000221486.3:p.Arg38Lys
ENST00000589765.1:n.41+18392C>T (HOOK2)
ENST00000590121.1:n.110G>A (RNASEH2A)
ENST00000590279.1:n.103G>A (RNASEH2A)
ENST00000593017.1:n.195G>A (RNASEH2A)
NM_006397.2:c.113G>A , LRG_278t1:c.113G>A (RNASEH2A)	NP_006388.2:p.Arg38Lys
XM_006722619.2:c.-5-222G>A (RNASEH2A)	XP_006722682.1:n.-5-222G>A
NM_006397.3:c.113G>A (RNASEH2A) MANE Select	NP_006388.2:p.Arg38Lys