Canonical Allele Identifier: CA305492097

Gene: RNASEH2A THSD8 HOOK2

Linked Data

• ClinVar Variation Id: 1975524
• ClinVar RCV Id: RCV002746634
• dbSNP Id: rs556955801
• gnomAD v2: 19-12917502-G-A
• gnomAD v3: 19-12806688-G-A
• gnomAD v4: 19-12806688-G-A
• MyVariant Identifiers: chr19:g.12917502G>A (hg19) ; chr19:g.12806688G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12806688G>A , CM000681.2:g.12806688G>A	GRCh38
NC_000019.9:g.12917502G>A , CM000681.1:g.12917502G>A	GRCh37
NC_000019.8:g.12778502G>A	NCBI36
NG_012662.1:g.5075G>A , LRG_278:g.5075G>A
NG_029901.1:g.193C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000221486.6:c.15G>A (RNASEH2A) MANE Select	ENSP00000221486.4:p.Glu5=
ENST00000590121.2:c.12G>A (RNASEH2A)	ENSP00000495087.1:p.Glu4=
ENST00000590279.2:n.97G>A (RNASEH2A)
ENST00000593017.2:n.5G>A (RNASEH2A)
ENST00000639767.2:c.*7-320G>A (THSD8)	ENSP00000491410.2:n.*7-320G>A
ENST00000643364.1:n.699G>A (THSD8)
ENST00000646769.1:c.15G>A (RNASEH2A)	ENSP00000495175.1:p.Glu5=
ENST00000221486.4:c.15G>A (RNASEH2A)	ENSP00000221486.3:p.Glu5=
ENST00000589765.1:n.41+18490C>T (HOOK2)
ENST00000590121.1:n.12G>A (RNASEH2A)
ENST00000590279.1:n.5G>A (RNASEH2A)
ENST00000593017.1:n.97G>A (RNASEH2A)
NM_006397.2:c.15G>A , LRG_278t1:c.15G>A (RNASEH2A)	NP_006388.2:p.Glu5=
XM_006722619.2:c.-5-320G>A (RNASEH2A)	XP_006722682.1:n.-5-320G>A
NM_006397.3:c.15G>A (RNASEH2A) MANE Select	NP_006388.2:p.Glu5=