Canonical Allele Identifier: CA2639357873

Gene: POLG2 MILR1

Linked Data

• gnomAD v4: 17-64496400-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496400A>C , CM000679.2:g.64496400A>C	GRCh38
NC_000017.10:g.62492518A>C , CM000679.1:g.62492518A>C	GRCh37
NC_000017.9:g.59922980A>C	NCBI36
NG_013029.1:g.5667T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.562+7T>G (POLG2) MANE Select	ENSP00000442563.2:n.562+7T>G
ENST00000585104.2:n.533+7T>G (POLG2)
ENST00000671755.1:c.533+7T>G (POLG2)
ENST00000673460.1:c.533+7T>G (POLG2)
ENST00000539111.6:c.562+7T>G (POLG2)	ENSP00000442563.2:n.562+7T>G
ENST00000578997.1:c.224+132T>G (POLG2)	ENSP00000464389.1:n.224+132T>G
ENST00000585141.5:n.613+7T>G (POLG2)
NM_007215.3:c.562+7T>G (POLG2)	NP_009146.2:n.562+7T>G
XM_006721651.2:c.562+7T>G (POLG2)	XP_006721714.1:n.562+7T>G
XR_243630.1:n.613+7T>G (POLG2)
XR_934357.1:n.613+7T>G (POLG2)
XR_934358.1:n.613+7T>G (POLG2)
XM_024450708.1:c.*108A>C (MILR1)	XP_024306476.1:n.*108A>C
XR_002957990.1:n.1350A>C (MILR1)
NM_007215.4:c.562+7T>G (POLG2) MANE Select	NP_009146.2:n.562+7T>G