Canonical Allele Identifier: CA8713011

Gene: POLG2 MILR1

Linked Data

• ClinVar Variation Id: 2980004
• ClinVar RCV Id: RCV003837178
• dbSNP Id: rs782788313
• ExAC: 17:62492568 G / A
• gnomAD v2: 17-62492568-G-A
• gnomAD v3: 17-64496450-G-A
• gnomAD v4: 17-64496450-G-A
• MyVariant Identifiers: chr17:g.62492568G>A (hg19) ; chr17:g.64496450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496450G>A , CM000679.2:g.64496450G>A	GRCh38
NC_000017.10:g.62492568G>A , CM000679.1:g.62492568G>A	GRCh37
NC_000017.9:g.59923030G>A	NCBI36
NG_013029.1:g.5617C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.519C>T (POLG2) MANE Select	ENSP00000442563.2:p.Asn173=
ENST00000585104.2:n.490C>T (POLG2)
ENST00000671755.1:c.490C>T (POLG2)
ENST00000673460.1:c.490C>T (POLG2)
ENST00000539111.6:c.519C>T (POLG2)	ENSP00000442563.2:p.Asn173=
ENST00000578997.1:c.224+82C>T (POLG2)	ENSP00000464389.1:n.224+82C>T
ENST00000585141.5:n.570C>T (POLG2)
NM_007215.3:c.519C>T (POLG2)	NP_009146.2:p.Asn173=
XM_006721651.2:c.519C>T (POLG2)	XP_006721714.1:p.Asn173=
XR_243630.1:n.570C>T (POLG2)
XR_934357.1:n.570C>T (POLG2)
XR_934358.1:n.570C>T (POLG2)
XM_024450708.1:c.*158G>A (MILR1)	XP_024306476.1:n.*158G>A
XR_002957990.1:n.1400G>A (MILR1)
NM_007215.4:c.519C>T (POLG2) MANE Select	NP_009146.2:p.Asn173=