Canonical Allele Identifier: CA8712943

Gene: POLG2 MILR1

Linked Data

• ClinVar Variation Id: 377256
• ClinVar RCV Id: RCV000438898 ; RCV001848744
• dbSNP Id: rs143660836
• ExAC: 17:62488885 C / T
• gnomAD v2: 17-62488885-C-T
• gnomAD v3: 17-64492768-C-T
• gnomAD v4: 17-64492768-C-T
• MyVariant Identifiers: chr17:g.62488885C>T (hg19) ; chr17:g.64492768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64492768C>T , CM000679.2:g.64492768C>T	GRCh38
NC_000017.10:g.62488885C>T , CM000679.1:g.62488885C>T	GRCh37
NC_000017.9:g.59919347C>T	NCBI36
NG_013029.1:g.9300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.694G>A (POLG2) MANE Select	ENSP00000442563.2:p.Gly232Ser
ENST00000585104.2:n.665G>A (POLG2)
ENST00000671755.1:c.665G>A (POLG2)
ENST00000673460.1:c.665G>A (POLG2)
ENST00000539111.6:c.694G>A (POLG2)	ENSP00000442563.2:p.Gly232Ser
ENST00000578687.5:n.21G>A (POLG2)
ENST00000578997.1:c.356G>A (POLG2)	ENSP00000464389.1:n.356G>A
ENST00000580893.5:n.132G>A (POLG2)
ENST00000585141.5:n.745G>A (POLG2)
NM_007215.3:c.694G>A (POLG2)	NP_009146.2:p.Gly232Ser
XM_006721651.2:c.694G>A (POLG2)	XP_006721714.1:p.Gly232Ser
XR_243630.1:n.745G>A (POLG2)
XR_934357.1:n.745G>A (POLG2)
XR_934358.1:n.745G>A (POLG2)
XM_024450706.1:c.*512C>T (MILR1)	XP_024306474.1:n.*512C>T
XM_024450708.1:c.*29-3553C>T (MILR1)	XP_024306476.1:n.*29-3553C>T
XR_002957989.1:n.1270+421C>T (MILR1)
XR_002957990.1:n.1270+421C>T (MILR1)
NM_007215.4:c.694G>A (POLG2) MANE Select	NP_009146.2:p.Gly232Ser