Canonical Allele Identifier: CA2639357791

Gene: POLG2 MILR1

Linked Data

• gnomAD v4: 17-64496355-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496355C>A , CM000679.2:g.64496355C>A	GRCh38
NC_000017.10:g.62492473C>A , CM000679.1:g.62492473C>A	GRCh37
NC_000017.9:g.59922935C>A	NCBI36
NG_013029.1:g.5712G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.562+52G>T (POLG2) MANE Select	ENSP00000442563.2:n.562+52G>T
ENST00000585104.2:n.533+52G>T (POLG2)
ENST00000671755.1:c.533+52G>T (POLG2)
ENST00000673460.1:c.533+52G>T (POLG2)
ENST00000539111.6:c.562+52G>T (POLG2)	ENSP00000442563.2:n.562+52G>T
ENST00000578997.1:c.224+177G>T (POLG2)	ENSP00000464389.1:n.224+177G>T
ENST00000585141.5:n.613+52G>T (POLG2)
NM_007215.3:c.562+52G>T (POLG2)	NP_009146.2:n.562+52G>T
XM_006721651.2:c.562+52G>T (POLG2)	XP_006721714.1:n.562+52G>T
XR_243630.1:n.613+52G>T (POLG2)
XR_934357.1:n.613+52G>T (POLG2)
XR_934358.1:n.613+52G>T (POLG2)
XM_024450708.1:c.*63C>A (MILR1)	XP_024306476.1:n.*63C>A
XR_002957990.1:n.1305C>A (MILR1)
NM_007215.4:c.562+52G>T (POLG2) MANE Select	NP_009146.2:n.562+52G>T