Canonical Allele Identifier: CA505631975

Gene: RNASEH2A THSD8 HOOK2

Linked Data

• ClinVar Variation Id: 2847567
• ClinVar RCV Id: RCV003613285
• gnomAD v4: 19-12806691-G-A
• MyVariant Identifiers: chr19:g.12917505G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12806691G>A , CM000681.2:g.12806691G>A	GRCh38
NC_000019.9:g.12917505G>A , CM000681.1:g.12917505G>A	GRCh37
NC_000019.8:g.12778505G>A	NCBI36
NG_012662.1:g.5078G>A , LRG_278:g.5078G>A
NG_029901.1:g.190C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000221486.6:c.18G>A (RNASEH2A) MANE Select	ENSP00000221486.4:p.Leu6=
ENST00000590121.2:c.15G>A (RNASEH2A)	ENSP00000495087.1:p.Leu5=
ENST00000590279.2:n.100G>A (RNASEH2A)
ENST00000593017.2:n.8G>A (RNASEH2A)
ENST00000639767.2:c.*7-317G>A (THSD8)	ENSP00000491410.2:n.*7-317G>A
ENST00000643364.1:n.702G>A (THSD8)
ENST00000646769.1:c.18G>A (RNASEH2A)	ENSP00000495175.1:p.Leu6=
ENST00000221486.4:c.18G>A (RNASEH2A)	ENSP00000221486.3:p.Leu6=
ENST00000589765.1:n.41+18487C>T (HOOK2)
ENST00000590121.1:n.15G>A (RNASEH2A)
ENST00000590279.1:n.8G>A (RNASEH2A)
ENST00000593017.1:n.100G>A (RNASEH2A)
NM_006397.2:c.18G>A , LRG_278t1:c.18G>A (RNASEH2A)	NP_006388.2:p.Leu6=
XM_006722619.2:c.-5-317G>A (RNASEH2A)	XP_006722682.1:n.-5-317G>A
NM_006397.3:c.18G>A (RNASEH2A) MANE Select	NP_006388.2:p.Leu6=