Canonical Allele Identifier: CA400639012

Gene: POLG2 MILR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64492712C>A , CM000679.2:g.64492712C>A	GRCh38
NC_000017.10:g.62488829C>A , CM000679.1:g.62488829C>A	GRCh37
NC_000017.9:g.59919291C>A	NCBI36
NG_013029.1:g.9356G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007215.4:c.750G>T (POLG2) MANE Select	NP_009146.2:p.Gln250His
ENST00000539111.7:c.750G>T (POLG2) MANE Select	ENSP00000442563.2:p.Gln250His
NM_007215.3:c.750G>T (POLG2)	NP_009146.2:p.Gln250His
ENST00000539111.6:c.750G>T (POLG2)	ENSP00000442563.2:p.Gln250His
ENST00000578687.5:n.77G>T (POLG2)
ENST00000578997.1:c.412G>T (POLG2)	ENSP00000464389.1:n.412G>T
ENST00000580893.5:n.188G>T (POLG2)
ENST00000581355.1:c.9G>T (POLG2)	ENSP00000462071.1:p.Gln3His
ENST00000585104.2:n.721G>T (POLG2)
ENST00000585141.5:n.801G>T (POLG2)
ENST00000671755.1:c.721G>T (POLG2)
ENST00000673460.1:c.721G>T (POLG2)
XM_006721651.2:c.750G>T (POLG2)	XP_006721714.1:p.Gln250His
XM_024450706.1:c.*456C>A (MILR1)	XP_024306474.1:n.*456C>A
XM_024450708.1:c.*29-3609C>A (MILR1)	XP_024306476.1:n.*29-3609C>A
XR_002957989.1:n.1270+365C>A (MILR1)
XR_002957990.1:n.1270+365C>A (MILR1)
XR_243630.1:n.801G>T (POLG2)
XR_934357.1:n.801G>T (POLG2)
XR_934358.1:n.801G>T (POLG2)