Canonical Allele Identifier: CA320482
Gene: POLG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3015349
ClinVar RCV Id: RCV003870956
dbSNP Id: rs781888267
ExAC: 17:62492605 T / C
gnomAD v2: 17-62492605-T-C
gnomAD v4: 17-64496487-T-C
MyVariant Identifiers: chr17:g.62492605T>C (hg19) chr17:g.64496487T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.64496487T>C , CM000679.2:g.64496487T>C GRCh38
NC_000017.10:g.62492605T>C , CM000679.1:g.62492605T>C GRCh37
NC_000017.9:g.59923067T>C NCBI36
NG_013029.1:g.5580A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000539111.7:c.482A>G MANE Select ENSP00000442563.2:p.Glu161Gly
ENST00000585104.2:n.453A>G
ENST00000671755.1:c.453A>G
ENST00000673460.1:c.453A>G
ENST00000539111.6:c.482A>G ENSP00000442563.2:p.Glu161Gly
ENST00000578997.1:c.224+45A>G ENSP00000464389.1:n.224+45A>G
ENST00000585141.5:n.533A>G
NM_007215.3:c.482A>G NP_009146.2:p.Glu161Gly
XM_006721651.2:c.482A>G XP_006721714.1:p.Glu161Gly
XR_243630.1:n.533A>G
XR_934357.1:n.533A>G
XR_934358.1:n.533A>G
NM_007215.4:c.482A>G MANE Select NP_009146.2:p.Glu161Gly
Search 100 bp 5'
Search 100 bp 3'