Canonical Allele Identifier: CA376847621
Community Standard Title: NM_001080449.3(DNA2):c.2428T>C (p.Phe810Leu)
Gene: DNA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68422579A>G , CM000672.2:g.68422579A>G GRCh38
NC_000010.10:g.70182336A>G , CM000672.1:g.70182336A>G GRCh37
NC_000010.9:g.69852342A>G NCBI36
NG_034247.1:g.54395T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001080449.3:c.2428T>C MANE Select NP_001073918.2:p.Phe810Leu
ENST00000358410.8:c.2428T>C MANE Select ENSP00000351185.3:p.Phe810Leu
NM_001080449.2:c.2428T>C NP_001073918.2:p.Phe810Leu
NR_102264.1:n.2402T>C
NR_102264.2:n.2402T>C
ENST00000358410.7:c.2428T>C ENSP00000351185.3:p.Phe810Leu
ENST00000399179.6:c.*249T>C ENSP00000382132.3:n.*249T>C
ENST00000399180.3:c.*249T>C ENSP00000382133.3:n.*249T>C
ENST00000440722.2:c.392T>C
ENST00000551118.6:c.1984-2687T>C ENSP00000450393.3:n.1984-2687T>C
XM_006717680.2:c.2518T>C XP_006717743.1:p.Phe840Leu
XM_006717680.3:c.2518T>C XP_006717743.1:p.Phe840Leu
XM_011539416.1:c.2518T>C XP_011537718.1:p.Phe840Leu
XM_011539417.1:c.1348T>C XP_011537719.1:p.Phe450Leu
XM_017015799.1:c.1756T>C XP_016871288.1:p.Phe586Leu