Canonical Allele Identifier: CA400640731

Gene: POLG2 MILR1

Linked Data

• dbSNP Id: rs2038152751
• gnomAD v4: 17-64496437-A-G
• MyVariant Identifiers: chr17:g.62492555A>G (hg19) ; chr17:g.64496437A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496437A>G , CM000679.2:g.64496437A>G	GRCh38
NC_000017.10:g.62492555A>G , CM000679.1:g.62492555A>G	GRCh37
NC_000017.9:g.59923017A>G	NCBI36
NG_013029.1:g.5630T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.532T>C (POLG2) MANE Select	ENSP00000442563.2:p.Ser178Pro
ENST00000585104.2:n.503T>C (POLG2)
ENST00000671755.1:c.503T>C (POLG2)
ENST00000673460.1:c.503T>C (POLG2)
ENST00000539111.6:c.532T>C (POLG2)	ENSP00000442563.2:p.Ser178Pro
ENST00000578997.1:c.224+95T>C (POLG2)	ENSP00000464389.1:n.224+95T>C
ENST00000585141.5:n.583T>C (POLG2)
NM_007215.3:c.532T>C (POLG2)	NP_009146.2:p.Ser178Pro
XM_006721651.2:c.532T>C (POLG2)	XP_006721714.1:p.Ser178Pro
XR_243630.1:n.583T>C (POLG2)
XR_934357.1:n.583T>C (POLG2)
XR_934358.1:n.583T>C (POLG2)
XM_024450708.1:c.*145A>G (MILR1)	XP_024306476.1:n.*145A>G
XR_002957990.1:n.1387A>G (MILR1)
NM_007215.4:c.532T>C (POLG2) MANE Select	NP_009146.2:p.Ser178Pro