Canonical Allele Identifier: CA774043259

Gene: POLG2

Linked Data

• dbSNP Id: rs1325073372
• MyVariant Identifiers: chr17:g.64496511_64496514del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496511_64496514del , CM000679.2:g.64496511_64496514del	GRCh38
NC_000017.10:g.62492629_62492632del , CM000679.1:g.62492629_62492632del	GRCh37
NC_000017.9:g.59923091_59923094del	NCBI36
NG_013029.1:g.5553_5556del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.455_458del MANE Select	ENSP00000442563.2:p.Thr152AsnfsTer10
ENST00000585104.2:n.426_429del
ENST00000671755.1:c.426_429del
ENST00000673460.1:c.426_429del
ENST00000539111.6:c.455_458del	ENSP00000442563.2:p.Thr152AsnfsTer10
ENST00000578997.1:c.224+18_224+21del	ENSP00000464389.1:n.224+18_224+21del
ENST00000585141.5:n.506_509del
NM_007215.3:c.455_458del	NP_009146.2:p.Thr152AsnfsTer10
XM_006721651.2:c.455_458del	XP_006721714.1:p.Thr152AsnfsTer10
XR_243630.1:n.506_509del
XR_934357.1:n.506_509del
XR_934358.1:n.506_509del
NM_007215.4:c.455_458del MANE Select	NP_009146.2:p.Thr152AsnfsTer10