Canonical Allele Identifier: CA8712982

Gene: POLG2 MILR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64493039A>C , CM000679.2:g.64493039A>C	GRCh38
NC_000017.10:g.62489156A>C , CM000679.1:g.62489156A>C	GRCh37
NC_000017.9:g.59919618A>C	NCBI36
NG_013029.1:g.9029T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_007215.4:c.563-18T>G (POLG2) MANE Select	NP_009146.2:n.563-18T>G
ENST00000539111.7:c.563-18T>G (POLG2) MANE Select	ENSP00000442563.2:n.563-18T>G
NM_007215.3:c.563-18T>G (POLG2)	NP_009146.2:n.563-18T>G
ENST00000539111.6:c.563-18T>G (POLG2)	ENSP00000442563.2:n.563-18T>G
ENST00000578997.1:c.225-18T>G (POLG2)	ENSP00000464389.1:n.225-18T>G
ENST00000585104.2:n.534-18T>G (POLG2)
ENST00000585141.5:n.614-18T>G (POLG2)
ENST00000671755.1:c.534-18T>G (POLG2)
ENST00000673460.1:c.534-18T>G (POLG2)
XM_006721651.2:c.563-18T>G (POLG2)	XP_006721714.1:n.563-18T>G
XM_024450708.1:c.*29-3282A>C (MILR1)	XP_024306476.1:n.*29-3282A>C
XR_002957989.1:n.1270+692A>C (MILR1)
XR_002957990.1:n.1270+692A>C (MILR1)
XR_243630.1:n.614-18T>G (POLG2)
XR_934357.1:n.614-18T>G (POLG2)
XR_934358.1:n.614-18T>G (POLG2)