Canonical Allele Identifier: CA400636953

Gene: POLG2 MILR1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64482920T>A , CM000679.2:g.64482920T>A	GRCh38
NC_000017.10:g.62479037T>A , CM000679.1:g.62479037T>A	GRCh37
NC_000017.9:g.59909499T>A	NCBI36
NG_013029.1:g.19148A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_007215.4:c.1190A>T (POLG2) MANE Select	NP_009146.2:p.Gln397Leu
ENST00000539111.7:c.1190A>T (POLG2) MANE Select	ENSP00000442563.2:p.Gln397Leu
NM_007215.3:c.1190A>T (POLG2)	NP_009146.2:p.Gln397Leu
ENST00000539111.6:c.1190A>T (POLG2)	ENSP00000442563.2:p.Gln397Leu
ENST00000577506.5:n.370A>T (POLG2)
ENST00000580490.1:n.267+1044A>T (POLG2)
ENST00000581355.1:c.449A>T (POLG2)	ENSP00000462071.1:p.Gln150Leu
ENST00000582501.5:n.798A>T (POLG2)
ENST00000585104.1:n.147A>T (POLG2)
ENST00000585104.2:n.1161A>T (POLG2)
ENST00000671755.1:c.1278A>T (POLG2)
ENST00000673460.1:c.3308A>T (POLG2)
XM_024450706.1:c.*29-9365T>A (MILR1)	XP_024306474.1:n.*29-9365T>A
XM_024450708.1:c.*29-13401T>A (MILR1)	XP_024306476.1:n.*29-13401T>A
XR_002957989.1:n.1208-9365T>A (MILR1)
XR_002957990.1:n.1208-9365T>A (MILR1)
XR_243630.1:n.1241A>T (POLG2)
XR_934357.1:n.3005A>T (POLG2)