Canonical Allele Identifier: CA8713056

Gene: POLG2

Linked Data

• ClinVar Variation Id: 378408
• ClinVar RCV Id: RCV000426439 ; RCV000922930 ; RCV001848745
• dbSNP Id: rs142121495
• ExAC: 17:62492772 C / T
• gnomAD v2: 17-62492772-C-T
• gnomAD v3: 17-64496654-C-T
• gnomAD v4: 17-64496654-C-T
• MyVariant Identifiers: chr17:g.62492772C>T (hg19) ; chr17:g.64496654C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496654C>T , CM000679.2:g.64496654C>T	GRCh38
NC_000017.10:g.62492772C>T , CM000679.1:g.62492772C>T	GRCh37
NC_000017.9:g.59923234C>T	NCBI36
NG_013029.1:g.5413G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.315G>A MANE Select	ENSP00000442563.2:p.Glu105=
ENST00000585104.2:n.286G>A
ENST00000671755.1:c.286G>A
ENST00000673460.1:c.286G>A
ENST00000539111.6:c.315G>A	ENSP00000442563.2:p.Glu105=
ENST00000578997.1:c.102G>A	ENSP00000464389.1:p.Glu34=
ENST00000585141.5:n.366G>A
NM_007215.3:c.315G>A	NP_009146.2:p.Glu105=
XM_006721651.2:c.315G>A	XP_006721714.1:p.Glu105=
XR_243630.1:n.366G>A
XR_934357.1:n.366G>A
XR_934358.1:n.366G>A
NM_007215.4:c.315G>A MANE Select	NP_009146.2:p.Glu105=