Canonical Allele Identifier: CA292887

Gene: POLG2 MILR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64480334C>G , CM000679.2:g.64480334C>G	GRCh38
NC_000017.10:g.62476451C>G , CM000679.1:g.62476451C>G	GRCh37
NC_000017.9:g.59906913C>G	NCBI36
NG_013029.1:g.21734G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.1247G>C (POLG2) MANE Select	ENSP00000442563.2:p.Gly416Ala
ENST00000585104.2:n.1419G>C (POLG2)
ENST00000671755.1:c.1335G>C (POLG2)
ENST00000673460.1:c.3365G>C (POLG2)
ENST00000539111.6:c.1247G>C (POLG2)	ENSP00000442563.2:p.Gly416Ala
ENST00000577506.5:n.427G>C (POLG2)
ENST00000581355.1:c.451-2346G>C (POLG2)	ENSP00000462071.1:n.451-2346G>C
ENST00000582501.5:n.855G>C (POLG2)
NM_007215.3:c.1247G>C (POLG2)	NP_009146.2:p.Gly416Ala
XR_243630.1:n.1499G>C (POLG2)
XR_934357.1:n.3062G>C (POLG2)
XM_024450706.1:c.*29-11951C>G (MILR1)	XP_024306474.1:n.*29-11951C>G
XM_024450708.1:c.*28+12689C>G (MILR1)	XP_024306476.1:n.*28+12689C>G
XR_002957989.1:n.1208-11951C>G (MILR1)
XR_002957990.1:n.1208-11951C>G (MILR1)
NM_007215.4:c.1247G>C (POLG2) MANE Select	NP_009146.2:p.Gly416Ala