Canonical Allele Identifier: CA626877939

Gene: POLG2 MILR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64483010T>G , CM000679.2:g.64483010T>G	GRCh38
NC_000017.10:g.62479127T>G , CM000679.1:g.62479127T>G	GRCh37
NC_000017.9:g.59909589T>G	NCBI36
NG_013029.1:g.19058A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_007215.4:c.1111-11A>C (POLG2) MANE Select	NP_009146.2:n.1111-11A>C
ENST00000539111.7:c.1111-11A>C (POLG2) MANE Select	ENSP00000442563.2:n.1111-11A>C
NM_007215.3:c.1111-11A>C (POLG2)	NP_009146.2:n.1111-11A>C
ENST00000539111.6:c.1111-11A>C (POLG2)	ENSP00000442563.2:n.1111-11A>C
ENST00000577506.5:n.316-36A>C (POLG2)
ENST00000580490.1:n.267+954A>C (POLG2)
ENST00000581355.1:c.370-11A>C (POLG2)	ENSP00000462071.1:n.370-11A>C
ENST00000582501.5:n.719-11A>C (POLG2)
ENST00000585104.1:n.68-11A>C (POLG2)
ENST00000585104.2:n.1082-11A>C (POLG2)
ENST00000671755.1:c.1199-11A>C (POLG2)
ENST00000673460.1:c.3229-11A>C (POLG2)
XM_024450706.1:c.*29-9275T>G (MILR1)	XP_024306474.1:n.*29-9275T>G
XM_024450708.1:c.*29-13311T>G (MILR1)	XP_024306476.1:n.*29-13311T>G
XR_002957989.1:n.1208-9275T>G (MILR1)
XR_002957990.1:n.1208-9275T>G (MILR1)
XR_243630.1:n.1162-11A>C (POLG2)
XR_934357.1:n.2926-11A>C (POLG2)