Canonical Allele Identifier: CA400640818

Gene: POLG2

Linked Data

• MyVariant Identifiers: chr17:g.62492594C>A (hg19) ; chr17:g.64496476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496476C>A , CM000679.2:g.64496476C>A	GRCh38
NC_000017.10:g.62492594C>A , CM000679.1:g.62492594C>A	GRCh37
NC_000017.9:g.59923056C>A	NCBI36
NG_013029.1:g.5591G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.493G>T MANE Select	ENSP00000442563.2:p.Glu165Ter
ENST00000585104.2:n.464G>T
ENST00000671755.1:c.464G>T
ENST00000673460.1:c.464G>T
ENST00000539111.6:c.493G>T	ENSP00000442563.2:p.Glu165Ter
ENST00000578997.1:c.224+56G>T	ENSP00000464389.1:n.224+56G>T
ENST00000585141.5:n.544G>T
NM_007215.3:c.493G>T	NP_009146.2:p.Glu165Ter
XM_006721651.2:c.493G>T	XP_006721714.1:p.Glu165Ter
XR_243630.1:n.544G>T
XR_934357.1:n.544G>T
XR_934358.1:n.544G>T
NM_007215.4:c.493G>T MANE Select	NP_009146.2:p.Glu165Ter