Canonical Allele Identifier: CA117371

Gene: POLG2 MILR1

Linked Data

• ClinVar Variation Id: 5276
• ClinVar RCV Id: RCV000005594 ; RCV003330384
• dbSNP Id: rs104894632
• gnomAD v4: 17-64477929-C-T
• MyVariant Identifiers: chr17:g.62474046C>T (hg19) ; chr17:g.64477929C>T (hg38)
• PubMed: PMID:16685652

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64477929C>T , CM000679.2:g.64477929C>T	GRCh38
NC_000017.10:g.62474046C>T , CM000679.1:g.62474046C>T	GRCh37
NC_000017.9:g.59904508C>T	NCBI36
NG_013029.1:g.24139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.1352G>A (POLG2) MANE Select	ENSP00000442563.2:p.Gly451Glu
ENST00000585104.2:n.1524G>A (POLG2)
ENST00000671755.1:c.1440G>A (POLG2)
ENST00000673460.1:c.3470G>A (POLG2)
ENST00000539111.6:c.1352G>A (POLG2)	ENSP00000442563.2:p.Gly451Glu
ENST00000581355.1:c.510G>A (POLG2)	ENSP00000462071.1:n.510G>A
NM_007215.3:c.1352G>A (POLG2)	NP_009146.2:p.Gly451Glu
XM_011524627.1:c.*29-1438C>T (MILR1)	XP_011522929.1:n.*29-1438C>T
XR_243630.1:n.1604G>A (POLG2)
XR_934357.1:n.3167G>A (POLG2)
XM_024450706.1:c.*28+10284C>T (MILR1)	XP_024306474.1:n.*28+10284C>T
XM_024450708.1:c.*28+10284C>T (MILR1)	XP_024306476.1:n.*28+10284C>T
XM_024450709.1:c.*29-1438C>T (MILR1)	XP_024306477.1:n.*29-1438C>T
XR_002957989.1:n.1207+10284C>T (MILR1)
XR_002957990.1:n.1207+10284C>T (MILR1)
NM_007215.4:c.1352G>A (POLG2) MANE Select	NP_009146.2:p.Gly451Glu