Canonical Allele Identifier: CA2270404862

Gene: POLG2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496525_64496534delinsAACTAACCTG , CM000679.2:g.64496525_64496534delinsAACTAACCTG	GRCh38
NC_000017.10:g.62492643_62492652delinsAACTAACCTG , CM000679.1:g.62492643_62492652delinsAACTAACCTG	GRCh37
NC_000017.9:g.59923105_59923114delinsAACTAACCTG	NCBI36
NG_013029.1:g.5533_5542delinsCAGGTTAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.435_444delinsCAGGTTAGTT MANE Select	ENSP00000442563.2:p.Phe145=
ENST00000585104.2:n.406_415delinsCAGGTTAGTT
ENST00000671755.1:c.406_415delinsCAGGTTAGTT
ENST00000673460.1:c.406_415delinsCAGGTTAGTT
ENST00000539111.6:c.435_444delinsCAGGTTAGTT	ENSP00000442563.2:p.Phe145=
ENST00000578997.1:c.222_224+7delinsCAGGTTAGTT
ENST00000585141.5:n.486_495delinsCAGGTTAGTT
NM_007215.3:c.435_444delinsCAGGTTAGTT	NP_009146.2:p.Phe145=
XM_006721651.2:c.435_444delinsCAGGTTAGTT	XP_006721714.1:p.Phe145=
XR_243630.1:n.486_495delinsCAGGTTAGTT
XR_934357.1:n.486_495delinsCAGGTTAGTT
XR_934358.1:n.486_495delinsCAGGTTAGTT
NM_007215.4:c.435_444delinsCAGGTTAGTT MANE Select	NP_009146.2:p.Phe145=