Canonical Allele Identifier: CA400638063

Gene: POLG2 MILR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64485808G>A , CM000679.2:g.64485808G>A	GRCh38
NC_000017.10:g.62481925G>A , CM000679.1:g.62481925G>A	GRCh37
NC_000017.9:g.59912387G>A	NCBI36
NG_013029.1:g.16260C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007215.4:c.1030C>T (POLG2) MANE Select	NP_009146.2:p.Arg344Ter
ENST00000539111.7:c.1030C>T (POLG2) MANE Select	ENSP00000442563.2:p.Arg344Ter
NM_007215.3:c.1030C>T (POLG2)	NP_009146.2:p.Arg344Ter
ENST00000539111.6:c.1030C>T (POLG2)	ENSP00000442563.2:p.Arg344Ter
ENST00000577506.5:n.235C>T (POLG2)
ENST00000581355.1:c.289C>T (POLG2)	ENSP00000462071.1:p.Arg97Ter
ENST00000582501.5:n.638C>T (POLG2)
ENST00000585104.2:n.1001C>T (POLG2)
ENST00000585141.5:n.1081C>T (POLG2)
ENST00000671755.1:c.1001C>T (POLG2)
ENST00000673460.1:c.1267C>T (POLG2)
XM_024450706.1:c.*29-6477G>A (MILR1)	XP_024306474.1:n.*29-6477G>A
XM_024450708.1:c.*29-10513G>A (MILR1)	XP_024306476.1:n.*29-10513G>A
XR_002957989.1:n.1208-6477G>A (MILR1)
XR_002957990.1:n.1208-6477G>A (MILR1)
XR_243630.1:n.1081C>T (POLG2)
XR_934357.1:n.1081C>T (POLG2)
XR_934358.1:n.1081C>T (POLG2)