Canonical Allele Identifier: CA321085
Gene: POLG2 HGNC NCBI

Linked Data

ClinVar Variation Id: 215017
ClinVar RCV Id: RCV001126454 RCV001705130 RCV001847879 RCV004530175
dbSNP Id: rs149446102
ExAC: 17:62492630 G / C
gnomAD v2: 17-62492630-G-C
gnomAD v3: 17-64496512-G-C
gnomAD v4: 17-64496512-G-C
MyVariant Identifiers: chr17:g.62492630G>C (hg19) chr17:g.64496512G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.64496512G>C , CM000679.2:g.64496512G>C GRCh38
NC_000017.10:g.62492630G>C , CM000679.1:g.62492630G>C GRCh37
NC_000017.9:g.59923092G>C NCBI36
NG_013029.1:g.5555C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000539111.7:c.457C>G MANE Select ENSP00000442563.2:p.Leu153Val
ENST00000585104.2:n.428C>G
ENST00000671755.1:c.428C>G
ENST00000673460.1:c.428C>G
ENST00000539111.6:c.457C>G ENSP00000442563.2:p.Leu153Val
ENST00000578997.1:c.224+20C>G ENSP00000464389.1:n.224+20C>G
ENST00000585141.5:n.508C>G
NM_007215.3:c.457C>G NP_009146.2:p.Leu153Val
XM_006721651.2:c.457C>G XP_006721714.1:p.Leu153Val
XR_243630.1:n.508C>G
XR_934357.1:n.508C>G
XR_934358.1:n.508C>G
NM_007215.4:c.457C>G MANE Select NP_009146.2:p.Leu153Val
Search 100 bp 5'
Search 100 bp 3'