Canonical Allele Identifier: CA501686617

Gene: POLG2

Linked Data

• MyVariant Identifiers: chr17:g.62492673C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496555C>T , CM000679.2:g.64496555C>T	GRCh38
NC_000017.10:g.62492673C>T , CM000679.1:g.62492673C>T	GRCh37
NC_000017.9:g.59923135C>T	NCBI36
NG_013029.1:g.5512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.414G>A MANE Select	ENSP00000442563.2:p.Leu138=
ENST00000585104.2:n.385G>A
ENST00000671755.1:c.385G>A
ENST00000673460.1:c.385G>A
ENST00000539111.6:c.414G>A	ENSP00000442563.2:p.Leu138=
ENST00000578997.1:c.201G>A	ENSP00000464389.1:p.Leu67=
ENST00000585141.5:n.465G>A
NM_007215.3:c.414G>A	NP_009146.2:p.Leu138=
XM_006721651.2:c.414G>A	XP_006721714.1:p.Leu138=
XR_243630.1:n.465G>A
XR_934357.1:n.465G>A
XR_934358.1:n.465G>A
NM_007215.4:c.414G>A MANE Select	NP_009146.2:p.Leu138=