Canonical Allele Identifier: CA501686404

Gene: POLG2

Linked Data

• dbSNP Id: rs1206149512
• MyVariant Identifiers: chr17:g.62492618A>G (hg19) ; chr17:g.64496500A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496500A>G , CM000679.2:g.64496500A>G	GRCh38
NC_000017.10:g.62492618A>G , CM000679.1:g.62492618A>G	GRCh37
NC_000017.9:g.59923080A>G	NCBI36
NG_013029.1:g.5567T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.469T>C MANE Select	ENSP00000442563.2:p.Leu157=
ENST00000585104.2:n.440T>C
ENST00000671755.1:c.440T>C
ENST00000673460.1:c.440T>C
ENST00000539111.6:c.469T>C	ENSP00000442563.2:p.Leu157=
ENST00000578997.1:c.224+32T>C	ENSP00000464389.1:n.224+32T>C
ENST00000585141.5:n.520T>C
NM_007215.3:c.469T>C	NP_009146.2:p.Leu157=
XM_006721651.2:c.469T>C	XP_006721714.1:p.Leu157=
XR_243630.1:n.520T>C
XR_934357.1:n.520T>C
XR_934358.1:n.520T>C
NM_007215.4:c.469T>C MANE Select	NP_009146.2:p.Leu157=