Canonical Allele Identifier: CA404263049

Gene: RNASEH2A THSD8 HOOK2

Linked Data

• gnomAD v4: 19-12806692-G-C
• MyVariant Identifiers: chr19:g.12917506G>C (hg19) ; chr19:g.12806692G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12806692G>C , CM000681.2:g.12806692G>C	GRCh38
NC_000019.9:g.12917506G>C , CM000681.1:g.12917506G>C	GRCh37
NC_000019.8:g.12778506G>C	NCBI36
NG_012662.1:g.5079G>C , LRG_278:g.5079G>C
NG_029901.1:g.189C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000221486.6:c.19G>C (RNASEH2A) MANE Select	ENSP00000221486.4:p.Glu7Gln
ENST00000590121.2:c.16G>C (RNASEH2A)	ENSP00000495087.1:p.Glu6Gln
ENST00000590279.2:n.101G>C (RNASEH2A)
ENST00000593017.2:n.9G>C (RNASEH2A)
ENST00000639767.2:c.*7-316G>C (THSD8)	ENSP00000491410.2:n.*7-316G>C
ENST00000643364.1:n.703G>C (THSD8)
ENST00000646769.1:c.19G>C (RNASEH2A)	ENSP00000495175.1:p.Glu7Gln
ENST00000221486.4:c.19G>C (RNASEH2A)	ENSP00000221486.3:p.Glu7Gln
ENST00000589765.1:n.41+18486C>G (HOOK2)
ENST00000590121.1:n.16G>C (RNASEH2A)
ENST00000590279.1:n.9G>C (RNASEH2A)
ENST00000593017.1:n.101G>C (RNASEH2A)
NM_006397.2:c.19G>C , LRG_278t1:c.19G>C (RNASEH2A)	NP_006388.2:p.Glu7Gln
XM_006722619.2:c.-5-316G>C (RNASEH2A)	XP_006722682.1:n.-5-316G>C
NM_006397.3:c.19G>C (RNASEH2A) MANE Select	NP_006388.2:p.Glu7Gln