Canonical Allele Identifier: CA376847567
Community Standard Title: NM_001080449.3(DNA2):c.2430C>A (p.Phe810Leu)
Gene: DNA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.68422577G>T , CM000672.2:g.68422577G>T GRCh38
NC_000010.10:g.70182334G>T , CM000672.1:g.70182334G>T GRCh37
NC_000010.9:g.69852340G>T NCBI36
NG_034247.1:g.54397C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001080449.3:c.2430C>A MANE Select NP_001073918.2:p.Phe810Leu
ENST00000358410.8:c.2430C>A MANE Select ENSP00000351185.3:p.Phe810Leu
NM_001080449.2:c.2430C>A NP_001073918.2:p.Phe810Leu
NR_102264.1:n.2404C>A
NR_102264.2:n.2404C>A
ENST00000358410.7:c.2430C>A ENSP00000351185.3:p.Phe810Leu
ENST00000399179.6:c.*251C>A ENSP00000382132.3:n.*251C>A
ENST00000399180.3:c.*251C>A ENSP00000382133.3:n.*251C>A
ENST00000440722.2:c.394C>A
ENST00000551118.6:c.1984-2685C>A ENSP00000450393.3:n.1984-2685C>A
XM_006717680.2:c.2520C>A XP_006717743.1:p.Phe840Leu
XM_006717680.3:c.2520C>A XP_006717743.1:p.Phe840Leu
XM_011539416.1:c.2520C>A XP_011537718.1:p.Phe840Leu
XM_011539417.1:c.1350C>A XP_011537719.1:p.Phe450Leu
XM_017015799.1:c.1758C>A XP_016871288.1:p.Phe586Leu