Canonical Allele Identifier: CA400640889

Gene: POLG2

Linked Data

• dbSNP Id: rs1555669536
• gnomAD v2: 17-62492627-G-A
• gnomAD v4: 17-64496509-G-A
• MyVariant Identifiers: chr17:g.62492627G>A (hg19) ; chr17:g.64496509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496509G>A , CM000679.2:g.64496509G>A	GRCh38
NC_000017.10:g.62492627G>A , CM000679.1:g.62492627G>A	GRCh37
NC_000017.9:g.59923089G>A	NCBI36
NG_013029.1:g.5558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.460C>T MANE Select	ENSP00000442563.2:p.Arg154Cys
ENST00000585104.2:n.431C>T
ENST00000671755.1:c.431C>T
ENST00000673460.1:c.431C>T
ENST00000539111.6:c.460C>T	ENSP00000442563.2:p.Arg154Cys
ENST00000578997.1:c.224+23C>T	ENSP00000464389.1:n.224+23C>T
ENST00000585141.5:n.511C>T
NM_007215.3:c.460C>T	NP_009146.2:p.Arg154Cys
XM_006721651.2:c.460C>T	XP_006721714.1:p.Arg154Cys
XR_243630.1:n.511C>T
XR_934357.1:n.511C>T
XR_934358.1:n.511C>T
NM_007215.4:c.460C>T MANE Select	NP_009146.2:p.Arg154Cys