Canonical Allele Identifier: CA400640757

Gene: POLG2 MILR1

Linked Data

• gnomAD v4: 17-64496449-C-A
• MyVariant Identifiers: chr17:g.62492567C>A (hg19) ; chr17:g.64496449C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496449C>A , CM000679.2:g.64496449C>A	GRCh38
NC_000017.10:g.62492567C>A , CM000679.1:g.62492567C>A	GRCh37
NC_000017.9:g.59923029C>A	NCBI36
NG_013029.1:g.5618G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.520G>T (POLG2) MANE Select	ENSP00000442563.2:p.Val174Leu
ENST00000585104.2:n.491G>T (POLG2)
ENST00000671755.1:c.491G>T (POLG2)
ENST00000673460.1:c.491G>T (POLG2)
ENST00000539111.6:c.520G>T (POLG2)	ENSP00000442563.2:p.Val174Leu
ENST00000578997.1:c.224+83G>T (POLG2)	ENSP00000464389.1:n.224+83G>T
ENST00000585141.5:n.571G>T (POLG2)
NM_007215.3:c.520G>T (POLG2)	NP_009146.2:p.Val174Leu
XM_006721651.2:c.520G>T (POLG2)	XP_006721714.1:p.Val174Leu
XR_243630.1:n.571G>T (POLG2)
XR_934357.1:n.571G>T (POLG2)
XR_934358.1:n.571G>T (POLG2)
XM_024450708.1:c.*157C>A (MILR1)	XP_024306476.1:n.*157C>A
XR_002957990.1:n.1399C>A (MILR1)
NM_007215.4:c.520G>T (POLG2) MANE Select	NP_009146.2:p.Val174Leu