Canonical Allele Identifier: CA8713026
Gene: POLG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 808310
ClinVar RCV Id: RCV000996599
dbSNP Id: rs781997214
ExAC: 17:62492632 G / C
gnomAD v2: 17-62492632-G-C
gnomAD v4: 17-64496514-G-C
MyVariant Identifiers: chr17:g.62492632G>C (hg19) chr17:g.64496514G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.64496514G>C , CM000679.2:g.64496514G>C GRCh38
NC_000017.10:g.62492632G>C , CM000679.1:g.62492632G>C GRCh37
NC_000017.9:g.59923094G>C NCBI36
NG_013029.1:g.5553C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000539111.7:c.455C>G MANE Select ENSP00000442563.2:p.Thr152Ser
ENST00000585104.2:n.426C>G
ENST00000671755.1:c.426C>G
ENST00000673460.1:c.426C>G
ENST00000539111.6:c.455C>G ENSP00000442563.2:p.Thr152Ser
ENST00000578997.1:c.224+18C>G ENSP00000464389.1:n.224+18C>G
ENST00000585141.5:n.506C>G
NM_007215.3:c.455C>G NP_009146.2:p.Thr152Ser
XM_006721651.2:c.455C>G XP_006721714.1:p.Thr152Ser
XR_243630.1:n.506C>G
XR_934357.1:n.506C>G
XR_934358.1:n.506C>G
NM_007215.4:c.455C>G MANE Select NP_009146.2:p.Thr152Ser
Search 100 bp 5'
Search 100 bp 3'