Canonical Allele Identifier: CA8712789

Gene: POLG2 MILR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64480318C>T , CM000679.2:g.64480318C>T	GRCh38
NC_000017.10:g.62476435C>T , CM000679.1:g.62476435C>T	GRCh37
NC_000017.9:g.59906897C>T	NCBI36
NG_013029.1:g.21750G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_007215.4:c.1263G>A (POLG2) MANE Select	NP_009146.2:p.Met421Ile
ENST00000539111.7:c.1263G>A (POLG2) MANE Select	ENSP00000442563.2:p.Met421Ile
NM_007215.3:c.1263G>A (POLG2)	NP_009146.2:p.Met421Ile
ENST00000539111.6:c.1263G>A (POLG2)	ENSP00000442563.2:p.Met421Ile
ENST00000577506.5:n.443G>A (POLG2)
ENST00000581355.1:c.451-2330G>A (POLG2)	ENSP00000462071.1:n.451-2330G>A
ENST00000582501.5:n.871G>A (POLG2)
ENST00000585104.2:n.1435G>A (POLG2)
ENST00000671755.1:c.1351G>A (POLG2)
ENST00000673460.1:c.3381G>A (POLG2)
XM_024450706.1:c.*29-11967C>T (MILR1)	XP_024306474.1:n.*29-11967C>T
XM_024450708.1:c.*28+12673C>T (MILR1)	XP_024306476.1:n.*28+12673C>T
XR_002957989.1:n.1208-11967C>T (MILR1)
XR_002957990.1:n.1208-11967C>T (MILR1)
XR_243630.1:n.1515G>A (POLG2)
XR_934357.1:n.3078G>A (POLG2)