Canonical Allele Identifier: CA8712956

Gene: POLG2 MILR1

Linked Data

• ClinVar Variation Id: 324559
• ClinVar RCV Id: RCV000335486 ; RCV000421922 ; RCV000441311 ; RCV001848667
• dbSNP Id: rs148101254
• ExAC: 17:62489027 C / T
• gnomAD v2: 17-62489027-C-T
• gnomAD v3: 17-64492910-C-T
• gnomAD v4: 17-64492910-C-T
• COSMIC: COSM982896
• MyVariant Identifiers: chr17:g.62489027C>T (hg19) ; chr17:g.64492910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64492910C>T , CM000679.2:g.64492910C>T	GRCh38
NC_000017.10:g.62489027C>T , CM000679.1:g.62489027C>T	GRCh37
NC_000017.9:g.59919489C>T	NCBI36
NG_013029.1:g.9158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.674G>A (POLG2) MANE Select	ENSP00000442563.2:p.Arg225Gln
ENST00000585104.2:n.645G>A (POLG2)
ENST00000671755.1:c.645G>A (POLG2)
ENST00000673460.1:c.645G>A (POLG2)
ENST00000539111.6:c.674G>A (POLG2)	ENSP00000442563.2:p.Arg225Gln
ENST00000578687.5:n.1G>A (POLG2)
ENST00000578997.1:c.336G>A (POLG2)	ENSP00000464389.1:n.336G>A
ENST00000580893.5:n.112G>A (POLG2)
ENST00000585141.5:n.725G>A (POLG2)
NM_007215.3:c.674G>A (POLG2)	NP_009146.2:p.Arg225Gln
XM_006721651.2:c.674G>A (POLG2)	XP_006721714.1:p.Arg225Gln
XR_243630.1:n.725G>A (POLG2)
XR_934357.1:n.725G>A (POLG2)
XR_934358.1:n.725G>A (POLG2)
XM_024450708.1:c.*29-3411C>T (MILR1)	XP_024306476.1:n.*29-3411C>T
XR_002957989.1:n.1270+563C>T (MILR1)
XR_002957990.1:n.1270+563C>T (MILR1)
NM_007215.4:c.674G>A (POLG2) MANE Select	NP_009146.2:p.Arg225Gln