Canonical Allele Identifier: CA2270404836
Gene: POLG2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.64496483C= , CM000679.2:g.64496483C= GRCh38
NC_000017.10:g.62492601C= , CM000679.1:g.62492601C= GRCh37
NC_000017.9:g.59923063C= NCBI36
NG_013029.1:g.5584G=

Transcript Alleles

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