Canonical Allele Identifier: CA404263055

Gene: RNASEH2A THSD8 HOOK2

Linked Data

• MyVariant Identifiers: chr19:g.12917507A>C (hg19) ; chr19:g.12806693A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12806693A>C , CM000681.2:g.12806693A>C	GRCh38
NC_000019.9:g.12917507A>C , CM000681.1:g.12917507A>C	GRCh37
NC_000019.8:g.12778507A>C	NCBI36
NG_012662.1:g.5080A>C , LRG_278:g.5080A>C
NG_029901.1:g.188T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000221486.6:c.20A>C (RNASEH2A) MANE Select	ENSP00000221486.4:p.Glu7Ala
ENST00000590121.2:c.17A>C (RNASEH2A)	ENSP00000495087.1:p.Glu6Ala
ENST00000590279.2:n.102A>C (RNASEH2A)
ENST00000593017.2:n.10A>C (RNASEH2A)
ENST00000639767.2:c.*7-315A>C (THSD8)	ENSP00000491410.2:n.*7-315A>C
ENST00000643364.1:n.704A>C (THSD8)
ENST00000646769.1:c.20A>C (RNASEH2A)	ENSP00000495175.1:p.Glu7Ala
ENST00000221486.4:c.20A>C (RNASEH2A)	ENSP00000221486.3:p.Glu7Ala
ENST00000589765.1:n.41+18485T>G (HOOK2)
ENST00000590121.1:n.17A>C (RNASEH2A)
ENST00000590279.1:n.10A>C (RNASEH2A)
ENST00000593017.1:n.102A>C (RNASEH2A)
NM_006397.2:c.20A>C , LRG_278t1:c.20A>C (RNASEH2A)	NP_006388.2:p.Glu7Ala
XM_006722619.2:c.-5-315A>C (RNASEH2A)	XP_006722682.1:n.-5-315A>C
NM_006397.3:c.20A>C (RNASEH2A) MANE Select	NP_006388.2:p.Glu7Ala