Canonical Allele Identifier: CA400640808

Gene: POLG2

Linked Data

• MyVariant Identifiers: chr17:g.62492590T>A (hg19) ; chr17:g.64496472T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496472T>A , CM000679.2:g.64496472T>A	GRCh38
NC_000017.10:g.62492590T>A , CM000679.1:g.62492590T>A	GRCh37
NC_000017.9:g.59923052T>A	NCBI36
NG_013029.1:g.5595A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.497A>T MANE Select	ENSP00000442563.2:p.Gln166Leu
ENST00000585104.2:n.468A>T
ENST00000671755.1:c.468A>T
ENST00000673460.1:c.468A>T
ENST00000539111.6:c.497A>T	ENSP00000442563.2:p.Gln166Leu
ENST00000578997.1:c.224+60A>T	ENSP00000464389.1:n.224+60A>T
ENST00000585141.5:n.548A>T
NM_007215.3:c.497A>T	NP_009146.2:p.Gln166Leu
XM_006721651.2:c.497A>T	XP_006721714.1:p.Gln166Leu
XR_243630.1:n.548A>T
XR_934357.1:n.548A>T
XR_934358.1:n.548A>T
NM_007215.4:c.497A>T MANE Select	NP_009146.2:p.Gln166Leu