Canonical Allele Identifier: CA501458847

Gene: POLG2 MILR1

Linked Data

• MyVariant Identifiers: chr17:g.62492586T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496468T>C , CM000679.2:g.64496468T>C	GRCh38
NC_000017.10:g.62492586T>C , CM000679.1:g.62492586T>C	GRCh37
NC_000017.9:g.59923048T>C	NCBI36
NG_013029.1:g.5599A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.501A>G (POLG2) MANE Select	ENSP00000442563.2:p.Leu167=
ENST00000585104.2:n.472A>G (POLG2)
ENST00000671755.1:c.472A>G (POLG2)
ENST00000673460.1:c.472A>G (POLG2)
ENST00000539111.6:c.501A>G (POLG2)	ENSP00000442563.2:p.Leu167=
ENST00000578997.1:c.224+64A>G (POLG2)	ENSP00000464389.1:n.224+64A>G
ENST00000585141.5:n.552A>G (POLG2)
NM_007215.3:c.501A>G (POLG2)	NP_009146.2:p.Leu167=
XM_006721651.2:c.501A>G (POLG2)	XP_006721714.1:p.Leu167=
XR_243630.1:n.552A>G (POLG2)
XR_934357.1:n.552A>G (POLG2)
XR_934358.1:n.552A>G (POLG2)
XM_024450708.1:c.*176T>C (MILR1)	XP_024306476.1:n.*176T>C
XR_002957990.1:n.1418T>C (MILR1)
NM_007215.4:c.501A>G (POLG2) MANE Select	NP_009146.2:p.Leu167=