Canonical Allele Identifier: CA400640911

Gene: POLG2

Linked Data

• MyVariant Identifiers: chr17:g.62492638G>T (hg19) ; chr17:g.64496520G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496520G>T , CM000679.2:g.64496520G>T	GRCh38
NC_000017.10:g.62492638G>T , CM000679.1:g.62492638G>T	GRCh37
NC_000017.9:g.59923100G>T	NCBI36
NG_013029.1:g.5547C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.449C>A MANE Select	ENSP00000442563.2:p.Ala150Glu
ENST00000585104.2:n.420C>A
ENST00000671755.1:c.420C>A
ENST00000673460.1:c.420C>A
ENST00000539111.6:c.449C>A	ENSP00000442563.2:p.Ala150Glu
ENST00000578997.1:c.224+12C>A	ENSP00000464389.1:n.224+12C>A
ENST00000585141.5:n.500C>A
NM_007215.3:c.449C>A	NP_009146.2:p.Ala150Glu
XM_006721651.2:c.449C>A	XP_006721714.1:p.Ala150Glu
XR_243630.1:n.500C>A
XR_934357.1:n.500C>A
XR_934358.1:n.500C>A
NM_007215.4:c.449C>A MANE Select	NP_009146.2:p.Ala150Glu