Canonical Allele Identifier: CA10646502

Gene: POLG2

Linked Data

• ClinVar Variation Id: 324563
• ClinVar RCV Id: RCV000311160
• dbSNP Id: rs886053251
• gnomAD v3: 17-64497034-G-A
• gnomAD v4: 17-64497034-G-A
• MyVariant Identifiers: chr17:g.62493152G>A (hg19) ; chr17:g.64497034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64497034G>A , CM000679.2:g.64497034G>A	GRCh38
NC_000017.10:g.62493152G>A , CM000679.1:g.62493152G>A	GRCh37
NC_000017.9:g.59923614G>A	NCBI36
NG_013029.1:g.5033C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.-66C>T MANE Select	ENSP00000442563.2:n.-66C>T
ENST00000539111.6:c.-66C>T	ENSP00000442563.2:n.-66C>T
NM_007215.3:c.-66C>T	NP_009146.2:n.-66C>T
NM_007215.4:c.-66C>T MANE Select	NP_009146.2:n.-66C>T