Canonical Allele Identifier: CA322282

Gene: POLG2 MILR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64492759T>C , CM000679.2:g.64492759T>C	GRCh38
NC_000017.10:g.62488876T>C , CM000679.1:g.62488876T>C	GRCh37
NC_000017.9:g.59919338T>C	NCBI36
NG_013029.1:g.9309A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007215.4:c.703A>G (POLG2) MANE Select	NP_009146.2:p.Thr235Ala
ENST00000539111.7:c.703A>G (POLG2) MANE Select	ENSP00000442563.2:p.Thr235Ala
NM_007215.3:c.703A>G (POLG2)	NP_009146.2:p.Thr235Ala
ENST00000539111.6:c.703A>G (POLG2)	ENSP00000442563.2:p.Thr235Ala
ENST00000578687.5:n.30A>G (POLG2)
ENST00000578997.1:c.365A>G (POLG2)	ENSP00000464389.1:n.365A>G
ENST00000580893.5:n.141A>G (POLG2)
ENST00000585104.2:n.674A>G (POLG2)
ENST00000585141.5:n.754A>G (POLG2)
ENST00000671755.1:c.674A>G (POLG2)
ENST00000673460.1:c.674A>G (POLG2)
XM_006721651.2:c.703A>G (POLG2)	XP_006721714.1:p.Thr235Ala
XM_024450706.1:c.*503T>C (MILR1)	XP_024306474.1:n.*503T>C
XM_024450708.1:c.*29-3562T>C (MILR1)	XP_024306476.1:n.*29-3562T>C
XR_002957989.1:n.1270+412T>C (MILR1)
XR_002957990.1:n.1270+412T>C (MILR1)
XR_243630.1:n.754A>G (POLG2)
XR_934357.1:n.754A>G (POLG2)
XR_934358.1:n.754A>G (POLG2)