Canonical Allele Identifier: CA400640955

Gene: POLG2

Linked Data

• MyVariant Identifiers: chr17:g.62492659C>T (hg19) ; chr17:g.64496541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496541C>T , CM000679.2:g.64496541C>T	GRCh38
NC_000017.10:g.62492659C>T , CM000679.1:g.62492659C>T	GRCh37
NC_000017.9:g.59923121C>T	NCBI36
NG_013029.1:g.5526G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.428G>A MANE Select	ENSP00000442563.2:p.Ser143Asn
ENST00000585104.2:n.399G>A
ENST00000671755.1:c.399G>A
ENST00000673460.1:c.399G>A
ENST00000539111.6:c.428G>A	ENSP00000442563.2:p.Ser143Asn
ENST00000578997.1:c.215G>A	ENSP00000464389.1:p.Ser72Asn
ENST00000585141.5:n.479G>A
NM_007215.3:c.428G>A	NP_009146.2:p.Ser143Asn
XM_006721651.2:c.428G>A	XP_006721714.1:p.Ser143Asn
XR_243630.1:n.479G>A
XR_934357.1:n.479G>A
XR_934358.1:n.479G>A
NM_007215.4:c.428G>A MANE Select	NP_009146.2:p.Ser143Asn