Canonical Allele Identifier: CA10586136
Gene: POLG2 HGNC NCBI
MILR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 252958
ClinVar RCV Id: RCV000258005 RCV000432548 RCV000824678 RCV002290967
dbSNP Id: rs886037843
gnomAD v2: 17-62492543-G-A
gnomAD v3: 17-64496425-G-A
gnomAD v4: 17-64496425-G-A
MyVariant Identifiers: chr17:g.62492543G>A (hg19) chr17:g.64496425G>A (hg38)
PubMed: PMID:27592148
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.64496425G>A , CM000679.2:g.64496425G>A GRCh38
NC_000017.10:g.62492543G>A , CM000679.1:g.62492543G>A GRCh37
NC_000017.9:g.59923005G>A NCBI36
NG_013029.1:g.5642C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000539111.7:c.544C>T (POLG2) MANE Select ENSP00000442563.2:p.Arg182Trp
ENST00000585104.2:n.515C>T (POLG2)
ENST00000671755.1:c.515C>T (POLG2)
ENST00000673460.1:c.515C>T (POLG2)
ENST00000539111.6:c.544C>T (POLG2) ENSP00000442563.2:p.Arg182Trp
ENST00000578997.1:c.224+107C>T (POLG2) ENSP00000464389.1:n.224+107C>T
ENST00000585141.5:n.595C>T (POLG2)
NM_007215.3:c.544C>T (POLG2) NP_009146.2:p.Arg182Trp
XM_006721651.2:c.544C>T (POLG2) XP_006721714.1:p.Arg182Trp
XR_243630.1:n.595C>T (POLG2)
XR_934357.1:n.595C>T (POLG2)
XR_934358.1:n.595C>T (POLG2)
XM_024450708.1:c.*133G>A (MILR1) XP_024306476.1:n.*133G>A
XR_002957990.1:n.1375G>A (MILR1)
NM_007215.4:c.544C>T (POLG2) MANE Select NP_009146.2:p.Arg182Trp
Search 100 bp 5'
Search 100 bp 3'