Canonical Allele Identifier: CA170539

Gene: DNA2

Linked Data

• ClinVar Variation Id: 143932
• ClinVar RCV Id: RCV000133461 ; RCV000162161
• dbSNP Id: rs587777614
• MyVariant Identifiers: chr10:g.70176460del (hg19) ; chr10:g.68416703del (hg38)
• PubMed: PMID:24389050 ; PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.68416704del , CM000672.2:g.68416704del	GRCh38
NC_000010.10:g.70176461del , CM000672.1:g.70176461del	GRCh37
NC_000010.9:g.69846467del	NCBI36
NG_034247.1:g.60271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000358410.8:c.3114+6del MANE Select	ENSP00000351185.3:n.3114+6del
ENST00000358410.7:c.3114+6del	ENSP00000351185.3:n.3114+6del
ENST00000399179.6:c.*935+6del	ENSP00000382132.3:n.*935+6del
ENST00000399180.3:c.*937+4del	ENSP00000382133.3:n.*937+4del
ENST00000440722.2:c.1084del
ENST00000550545.1:n.543del
ENST00000551118.6:c.2402+4del	ENSP00000450393.3:n.2402+4del
NM_001080449.2:c.3114+6del	NP_001073918.2:n.3114+6del
NR_102264.1:n.3088+6del
XM_006717680.2:c.3204+6del	XP_006717743.1:n.3204+6del
XM_011539417.1:c.2034+6del	XP_011537719.1:n.2034+6del
XM_006717680.3:c.3204+6del	XP_006717743.1:n.3204+6del
XM_017015799.1:c.2442+6del	XP_016871288.1:n.2442+6del
NM_001080449.3:c.3114+6del MANE Select	NP_001073918.2:n.3114+6del
NR_102264.2:n.3088+6del