Canonical Allele Identifier: CA400640986

Gene: POLG2

Linked Data

• gnomAD v4: 17-64496556-A-C
• MyVariant Identifiers: chr17:g.62492674A>C (hg19) ; chr17:g.64496556A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496556A>C , CM000679.2:g.64496556A>C	GRCh38
NC_000017.10:g.62492674A>C , CM000679.1:g.62492674A>C	GRCh37
NC_000017.9:g.59923136A>C	NCBI36
NG_013029.1:g.5511T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.413T>G MANE Select	ENSP00000442563.2:p.Leu138Trp
ENST00000585104.2:n.384T>G
ENST00000671755.1:c.384T>G
ENST00000673460.1:c.384T>G
ENST00000539111.6:c.413T>G	ENSP00000442563.2:p.Leu138Trp
ENST00000578997.1:c.200T>G	ENSP00000464389.1:p.Leu67Trp
ENST00000585141.5:n.464T>G
NM_007215.3:c.413T>G	NP_009146.2:p.Leu138Trp
XM_006721651.2:c.413T>G	XP_006721714.1:p.Leu138Trp
XR_243630.1:n.464T>G
XR_934357.1:n.464T>G
XR_934358.1:n.464T>G
NM_007215.4:c.413T>G MANE Select	NP_009146.2:p.Leu138Trp