Canonical Allele Identifier: CA5525327
Gene: DNA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68468269A>G , CM000672.2:g.68468269A>G GRCh38
NC_000010.10:g.70228026A>G , CM000672.1:g.70228026A>G GRCh37
NC_000010.9:g.69898032A>G NCBI36
NG_034247.1:g.8705T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001080449.3:c.295T>C MANE Select NP_001073918.2:p.Leu99=
ENST00000358410.8:c.295T>C MANE Select ENSP00000351185.3:p.Leu99=
NM_001080449.2:c.295T>C NP_001073918.2:p.Leu99=
NR_102264.1:n.384T>C
NR_102264.2:n.384T>C
ENST00000358410.7:c.295T>C ENSP00000351185.3:p.Leu99=
ENST00000399179.6:c.295T>C ENSP00000382132.3:p.Leu99=
ENST00000399180.3:c.295T>C ENSP00000382133.3:p.Leu99=
ENST00000550357.1:c.*299T>C ENSP00000450014.1:n.*299T>C
ENST00000551118.6:c.295T>C ENSP00000450393.3:p.Leu99=
XM_006717680.2:c.385T>C XP_006717743.1:p.Leu129=
XM_006717680.3:c.385T>C XP_006717743.1:p.Leu129=
XM_011539416.1:c.385T>C XP_011537718.1:p.Leu129=
XM_011539418.1:c.385T>C XP_011537720.1:p.Leu129=
XM_011539419.1:c.385T>C XP_011537721.1:p.Leu129=