Canonical Allele Identifier: CA2270404833
Gene: POLG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.64496479_64496483delinsTACTC , CM000679.2:g.64496479_64496483delinsTACTC GRCh38
NC_000017.10:g.62492597_62492601delinsTACTC , CM000679.1:g.62492597_62492601delinsTACTC GRCh37
NC_000017.9:g.59923059_59923063delinsTACTC NCBI36
NG_013029.1:g.5584_5588delinsGAGTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000539111.7:c.486_490delinsGAGTA MANE Select ENSP00000442563.2:p.Leu162=
ENST00000585104.2:n.457_461delinsGAGTA
ENST00000671755.1:c.457_461delinsGAGTA
ENST00000673460.1:c.457_461delinsGAGTA
ENST00000539111.6:c.486_490delinsGAGTA ENSP00000442563.2:p.Leu162=
ENST00000578997.1:c.224+49_224+53delinsGAGTA ENSP00000464389.1:n.224+49_224+53delinsGAGTA
ENST00000585141.5:n.537_541delinsGAGTA
NM_007215.3:c.486_490delinsGAGTA NP_009146.2:p.Leu162=
XM_006721651.2:c.486_490delinsGAGTA XP_006721714.1:p.Leu162=
XR_243630.1:n.537_541delinsGAGTA
XR_934357.1:n.537_541delinsGAGTA
XR_934358.1:n.537_541delinsGAGTA
NM_007215.4:c.486_490delinsGAGTA MANE Select NP_009146.2:p.Leu162=