Canonical Allele Identifier: CA400640764

Gene: POLG2 MILR1

Linked Data

• dbSNP Id: rs2038152983
• gnomAD v3: 17-64496451-T-G
• gnomAD v4: 17-64496451-T-G
• MyVariant Identifiers: chr17:g.62492569T>G (hg19) ; chr17:g.64496451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496451T>G , CM000679.2:g.64496451T>G	GRCh38
NC_000017.10:g.62492569T>G , CM000679.1:g.62492569T>G	GRCh37
NC_000017.9:g.59923031T>G	NCBI36
NG_013029.1:g.5616A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.518A>C (POLG2) MANE Select	ENSP00000442563.2:p.Asn173Thr
ENST00000585104.2:n.489A>C (POLG2)
ENST00000671755.1:c.489A>C (POLG2)
ENST00000673460.1:c.489A>C (POLG2)
ENST00000539111.6:c.518A>C (POLG2)	ENSP00000442563.2:p.Asn173Thr
ENST00000578997.1:c.224+81A>C (POLG2)	ENSP00000464389.1:n.224+81A>C
ENST00000585141.5:n.569A>C (POLG2)
NM_007215.3:c.518A>C (POLG2)	NP_009146.2:p.Asn173Thr
XM_006721651.2:c.518A>C (POLG2)	XP_006721714.1:p.Asn173Thr
XR_243630.1:n.569A>C (POLG2)
XR_934357.1:n.569A>C (POLG2)
XR_934358.1:n.569A>C (POLG2)
XM_024450708.1:c.*159T>G (MILR1)	XP_024306476.1:n.*159T>G
XR_002957990.1:n.1401T>G (MILR1)
NM_007215.4:c.518A>C (POLG2) MANE Select	NP_009146.2:p.Asn173Thr