Canonical Allele Identifier: CA130800

Gene: POLG2 MILR1

Linked Data

• ClinVar Variation Id: 40248
• ClinVar RCV Id: RCV000033246 ; RCV000996597 ; RCV001847629 ; RCV004532480
• dbSNP Id: rs201936720
• ExAC: 17:62481850 T / C
• gnomAD v2: 17-62481850-T-C
• gnomAD v3: 17-64485733-T-C
• gnomAD v4: 17-64485733-T-C
• MyVariant Identifiers: chr17:g.62481850T>C (hg19) ; chr17:g.64485733T>C (hg38)
• PubMed: PMID:21555342 ; PMID:27535533

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64485733T>C , CM000679.2:g.64485733T>C	GRCh38
NC_000017.10:g.62481850T>C , CM000679.1:g.62481850T>C	GRCh37
NC_000017.9:g.59912312T>C	NCBI36
NG_013029.1:g.16335A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.1105A>G (POLG2) MANE Select	ENSP00000442563.2:p.Arg369Gly
ENST00000585104.2:n.1076A>G (POLG2)
ENST00000671755.1:c.1076A>G (POLG2)
ENST00000673460.1:c.1342A>G (POLG2)
ENST00000539111.6:c.1105A>G (POLG2)	ENSP00000442563.2:p.Arg369Gly
ENST00000577506.5:n.310A>G (POLG2)
ENST00000581355.1:c.364A>G (POLG2)	ENSP00000462071.1:p.Arg122Gly
ENST00000582501.5:n.713A>G (POLG2)
ENST00000585104.1:n.62A>G (POLG2)
ENST00000585141.5:n.1156A>G (POLG2)
NM_007215.3:c.1105A>G (POLG2)	NP_009146.2:p.Arg369Gly
XR_243630.1:n.1156A>G (POLG2)
XR_934357.1:n.1156A>G (POLG2)
XR_934358.1:n.1156A>G (POLG2)
XM_024450706.1:c.*29-6552T>C (MILR1)	XP_024306474.1:n.*29-6552T>C
XM_024450708.1:c.*29-10588T>C (MILR1)	XP_024306476.1:n.*29-10588T>C
XR_002957989.1:n.1208-6552T>C (MILR1)
XR_002957990.1:n.1208-6552T>C (MILR1)
NM_007215.4:c.1105A>G (POLG2) MANE Select	NP_009146.2:p.Arg369Gly