Canonical Allele Identifier: CA501458839

Gene: POLG2 MILR1

Linked Data

• ClinVar Variation Id: 2024963
• ClinVar RCV Id: RCV002880413
• dbSNP Id: rs1555669524
• gnomAD v2: 17-62492577-A-G
• gnomAD v4: 17-64496459-A-G
• MyVariant Identifiers: chr17:g.62492577A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496459A>G , CM000679.2:g.64496459A>G	GRCh38
NC_000017.10:g.62492577A>G , CM000679.1:g.62492577A>G	GRCh37
NC_000017.9:g.59923039A>G	NCBI36
NG_013029.1:g.5608T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.510T>C (POLG2) MANE Select	ENSP00000442563.2:p.Phe170=
ENST00000585104.2:n.481T>C (POLG2)
ENST00000671755.1:c.481T>C (POLG2)
ENST00000673460.1:c.481T>C (POLG2)
ENST00000539111.6:c.510T>C (POLG2)	ENSP00000442563.2:p.Phe170=
ENST00000578997.1:c.224+73T>C (POLG2)	ENSP00000464389.1:n.224+73T>C
ENST00000585141.5:n.561T>C (POLG2)
NM_007215.3:c.510T>C (POLG2)	NP_009146.2:p.Phe170=
XM_006721651.2:c.510T>C (POLG2)	XP_006721714.1:p.Phe170=
XR_243630.1:n.561T>C (POLG2)
XR_934357.1:n.561T>C (POLG2)
XR_934358.1:n.561T>C (POLG2)
XM_024450708.1:c.*167A>G (MILR1)	XP_024306476.1:n.*167A>G
XR_002957990.1:n.1409A>G (MILR1)
NM_007215.4:c.510T>C (POLG2) MANE Select	NP_009146.2:p.Phe170=