Canonical Allele Identifier: CA323039

Gene: POLG2 MILR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64482952A>C , CM000679.2:g.64482952A>C	GRCh38
NC_000017.10:g.62479069A>C , CM000679.1:g.62479069A>C	GRCh37
NC_000017.9:g.59909531A>C	NCBI36
NG_013029.1:g.19116T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.1158T>G (POLG2) MANE Select	ENSP00000442563.2:p.Asp386Glu
ENST00000585104.2:n.1129T>G (POLG2)
ENST00000671755.1:c.1246T>G (POLG2)
ENST00000673460.1:c.3276T>G (POLG2)
ENST00000539111.6:c.1158T>G (POLG2)	ENSP00000442563.2:p.Asp386Glu
ENST00000577506.5:n.338T>G (POLG2)
ENST00000580490.1:n.267+1012T>G (POLG2)
ENST00000581355.1:c.417T>G (POLG2)	ENSP00000462071.1:p.Asp139Glu
ENST00000582501.5:n.766T>G (POLG2)
ENST00000585104.1:n.115T>G (POLG2)
NM_007215.3:c.1158T>G (POLG2)	NP_009146.2:p.Asp386Glu
XR_243630.1:n.1209T>G (POLG2)
XR_934357.1:n.2973T>G (POLG2)
XM_024450706.1:c.*29-9333A>C (MILR1)	XP_024306474.1:n.*29-9333A>C
XM_024450708.1:c.*29-13369A>C (MILR1)	XP_024306476.1:n.*29-13369A>C
XR_002957989.1:n.1208-9333A>C (MILR1)
XR_002957990.1:n.1208-9333A>C (MILR1)
NM_007215.4:c.1158T>G (POLG2) MANE Select	NP_009146.2:p.Asp386Glu