Canonical Allele Identifier: CA292885

Gene: POLG2 MILR1

Linked Data

• ClinVar Variation Id: 138782
• ClinVar RCV Id: RCV000127568 ; RCV000399594 ; RCV000676625 ; RCV001789191 ; RCV001789192
• dbSNP Id: rs1427463
• ExAC: 17:62492582 C / T
• gnomAD v2: 17-62492582-C-T
• gnomAD v3: 17-64496464-C-T
• gnomAD v4: 17-64496464-C-T
• MyVariant Identifiers: chr17:g.62492582C>T (hg19) ; chr17:g.64496464C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496464C>T , CM000679.2:g.64496464C>T	GRCh38
NC_000017.10:g.62492582C>T , CM000679.1:g.62492582C>T	GRCh37
NC_000017.9:g.59923044C>T	NCBI36
NG_013029.1:g.5603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.505G>A (POLG2) MANE Select	ENSP00000442563.2:p.Ala169Thr
ENST00000585104.2:n.476G>A (POLG2)
ENST00000671755.1:c.476G>A (POLG2)
ENST00000673460.1:c.476G>A (POLG2)
ENST00000539111.6:c.505G>A (POLG2)	ENSP00000442563.2:p.Ala169Thr
ENST00000578997.1:c.224+68G>A (POLG2)	ENSP00000464389.1:n.224+68G>A
ENST00000585141.5:n.556G>A (POLG2)
NM_007215.3:c.505G>A (POLG2)	NP_009146.2:p.Ala169Thr
XM_006721651.2:c.505G>A (POLG2)	XP_006721714.1:p.Ala169Thr
XR_243630.1:n.556G>A (POLG2)
XR_934357.1:n.556G>A (POLG2)
XR_934358.1:n.556G>A (POLG2)
XM_024450708.1:c.*172C>T (MILR1)	XP_024306476.1:n.*172C>T
XR_002957990.1:n.1414C>T (MILR1)
NM_007215.4:c.505G>A (POLG2) MANE Select	NP_009146.2:p.Ala169Thr