Canonical Allele Identifier: CA400640860

Gene: POLG2

Linked Data

• MyVariant Identifiers: chr17:g.62492613T>G (hg19) ; chr17:g.64496495T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496495T>G , CM000679.2:g.64496495T>G	GRCh38
NC_000017.10:g.62492613T>G , CM000679.1:g.62492613T>G	GRCh37
NC_000017.9:g.59923075T>G	NCBI36
NG_013029.1:g.5572A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.474A>C MANE Select	ENSP00000442563.2:p.Gln158His
ENST00000585104.2:n.445A>C
ENST00000671755.1:c.445A>C
ENST00000673460.1:c.445A>C
ENST00000539111.6:c.474A>C	ENSP00000442563.2:p.Gln158His
ENST00000578997.1:c.224+37A>C	ENSP00000464389.1:n.224+37A>C
ENST00000585141.5:n.525A>C
NM_007215.3:c.474A>C	NP_009146.2:p.Gln158His
XM_006721651.2:c.474A>C	XP_006721714.1:p.Gln158His
XR_243630.1:n.525A>C
XR_934357.1:n.525A>C
XR_934358.1:n.525A>C
NM_007215.4:c.474A>C MANE Select	NP_009146.2:p.Gln158His