Canonical Allele Identifier: CA400640927

Gene: POLG2

Linked Data

• MyVariant Identifiers: chr17:g.62492647A>C (hg19) ; chr17:g.64496529A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496529A>C , CM000679.2:g.64496529A>C	GRCh38
NC_000017.10:g.62492647A>C , CM000679.1:g.62492647A>C	GRCh37
NC_000017.9:g.59923109A>C	NCBI36
NG_013029.1:g.5538T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.440T>G MANE Select	ENSP00000442563.2:p.Leu147Ter
ENST00000585104.2:n.411T>G
ENST00000671755.1:c.411T>G
ENST00000673460.1:c.411T>G
ENST00000539111.6:c.440T>G	ENSP00000442563.2:p.Leu147Ter
ENST00000578997.1:c.224+3T>G	ENSP00000464389.1:n.224+3T>G
ENST00000585141.5:n.491T>G
NM_007215.3:c.440T>G	NP_009146.2:p.Leu147Ter
XM_006721651.2:c.440T>G	XP_006721714.1:p.Leu147Ter
XR_243630.1:n.491T>G
XR_934357.1:n.491T>G
XR_934358.1:n.491T>G
NM_007215.4:c.440T>G MANE Select	NP_009146.2:p.Leu147Ter