Canonical Allele Identifier: CA2697548677

Gene: RNASEH2C

Linked Data

• ClinVar Variation Id: 2716827
• ClinVar RCV Id: RCV003496545 ; RCV004369094

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65719805_65719806del , CM000673.2:g.65719805_65719806del	GRCh38
NC_000011.9:g.65487276_65487277del , CM000673.1:g.65487276_65487277del	GRCh37
NC_000011.8:g.65243852_65243853del	NCBI36
NG_008976.2:g.6134_6135del , LRG_280:g.6134_6135del
NG_033057.1:g.12804_12805del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308418.10:c.473_474del MANE Select	ENSP00000308193.5:p.His158ArgfsTer12
ENST00000528220.2:n.702_703del
ENST00000531596.6:c.473_474del	ENSP00000435717.2:p.His158ArgfsTer12
ENST00000534482.6:c.473_474del	ENSP00000432081.2:p.His158ArgfsTer12
ENST00000642430.1:n.366_367del
ENST00000643214.1:n.547_548del
ENST00000644142.1:c.473_474del	ENSP00000493695.1:p.His158ArgfsTer12
ENST00000644198.1:n.370_371del
ENST00000646597.1:n.410_411del
ENST00000308418.8:c.473_474del	ENSP00000308193.4:p.His158ArgfsTer12
ENST00000527610.1:c.708_709del	ENSP00000432897.1:p.Arg237HisfsTer22
ENST00000528220.1:c.224_225del	ENSP00000431555.1:p.His75ArgfsTer12
ENST00000531596.5:c.454_455del
ENST00000533698.5:c.352_353del
ENST00000534482.5:c.367_368del
NM_032193.3:c.473_474del , LRG_280t1:c.473_474del	NP_115569.2:p.His158ArgfsTer12
NM_032193.4:c.473_474del MANE Select	NP_115569.2:p.His158ArgfsTer12