Canonical Allele Identifier: CA400640968

Gene: POLG2

Linked Data

• MyVariant Identifiers: chr17:g.62492665C>G (hg19) ; chr17:g.64496547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496547C>G , CM000679.2:g.64496547C>G	GRCh38
NC_000017.10:g.62492665C>G , CM000679.1:g.62492665C>G	GRCh37
NC_000017.9:g.59923127C>G	NCBI36
NG_013029.1:g.5520G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.422G>C MANE Select	ENSP00000442563.2:p.Gly141Ala
ENST00000585104.2:n.393G>C
ENST00000671755.1:c.393G>C
ENST00000673460.1:c.393G>C
ENST00000539111.6:c.422G>C	ENSP00000442563.2:p.Gly141Ala
ENST00000578997.1:c.209G>C	ENSP00000464389.1:p.Gly70Ala
ENST00000585141.5:n.473G>C
NM_007215.3:c.422G>C	NP_009146.2:p.Gly141Ala
XM_006721651.2:c.422G>C	XP_006721714.1:p.Gly141Ala
XR_243630.1:n.473G>C
XR_934357.1:n.473G>C
XR_934358.1:n.473G>C
NM_007215.4:c.422G>C MANE Select	NP_009146.2:p.Gly141Ala