Canonical Allele Identifier: CA8712854

Gene: POLG2 MILR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64485776G>A , CM000679.2:g.64485776G>A	GRCh38
NC_000017.10:g.62481893G>A , CM000679.1:g.62481893G>A	GRCh37
NC_000017.9:g.59912355G>A	NCBI36
NG_013029.1:g.16292C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007215.4:c.1062C>T (POLG2) MANE Select	NP_009146.2:p.Phe354=
ENST00000539111.7:c.1062C>T (POLG2) MANE Select	ENSP00000442563.2:p.Phe354=
NM_007215.3:c.1062C>T (POLG2)	NP_009146.2:p.Phe354=
ENST00000539111.6:c.1062C>T (POLG2)	ENSP00000442563.2:p.Phe354=
ENST00000577506.5:n.267C>T (POLG2)
ENST00000581355.1:c.321C>T (POLG2)	ENSP00000462071.1:p.Phe107=
ENST00000582501.5:n.670C>T (POLG2)
ENST00000585104.1:n.19C>T (POLG2)
ENST00000585104.2:n.1033C>T (POLG2)
ENST00000585141.5:n.1113C>T (POLG2)
ENST00000671755.1:c.1033C>T (POLG2)
ENST00000673460.1:c.1299C>T (POLG2)
XM_024450706.1:c.*29-6509G>A (MILR1)	XP_024306474.1:n.*29-6509G>A
XM_024450708.1:c.*29-10545G>A (MILR1)	XP_024306476.1:n.*29-10545G>A
XR_002957989.1:n.1208-6509G>A (MILR1)
XR_002957990.1:n.1208-6509G>A (MILR1)
XR_243630.1:n.1113C>T (POLG2)
XR_934357.1:n.1113C>T (POLG2)
XR_934358.1:n.1113C>T (POLG2)