Canonical Allele Identifier: CA501686367

Gene: POLG2

Linked Data

• dbSNP Id: rs2038153789
• gnomAD v4: 17-64496483-C-G
• MyVariant Identifiers: chr17:g.62492601C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496483C>G , CM000679.2:g.64496483C>G	GRCh38
NC_000017.10:g.62492601C>G , CM000679.1:g.62492601C>G	GRCh37
NC_000017.9:g.59923063C>G	NCBI36
NG_013029.1:g.5584G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.486G>C MANE Select	ENSP00000442563.2:p.Leu162=
ENST00000585104.2:n.457G>C
ENST00000671755.1:c.457G>C
ENST00000673460.1:c.457G>C
ENST00000539111.6:c.486G>C	ENSP00000442563.2:p.Leu162=
ENST00000578997.1:c.224+49G>C	ENSP00000464389.1:n.224+49G>C
ENST00000585141.5:n.537G>C
NM_007215.3:c.486G>C	NP_009146.2:p.Leu162=
XM_006721651.2:c.486G>C	XP_006721714.1:p.Leu162=
XR_243630.1:n.537G>C
XR_934357.1:n.537G>C
XR_934358.1:n.537G>C
NM_007215.4:c.486G>C MANE Select	NP_009146.2:p.Leu162=