Canonical Allele Identifier: CA400640729

Gene: POLG2 MILR1

Linked Data

• ClinVar Variation Id: 1943909
• ClinVar RCV Id: RCV002650689
• dbSNP Id: rs782061130
• gnomAD v4: 17-64496436-G-T
• COSMIC: COSM1385292
• MyVariant Identifiers: chr17:g.62492554G>T (hg19) ; chr17:g.64496436G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64496436G>T , CM000679.2:g.64496436G>T	GRCh38
NC_000017.10:g.62492554G>T , CM000679.1:g.62492554G>T	GRCh37
NC_000017.9:g.59923016G>T	NCBI36
NG_013029.1:g.5631C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.533C>A (POLG2) MANE Select	ENSP00000442563.2:p.Ser178Tyr
ENST00000585104.2:n.504C>A (POLG2)
ENST00000671755.1:c.504C>A (POLG2)
ENST00000673460.1:c.504C>A (POLG2)
ENST00000539111.6:c.533C>A (POLG2)	ENSP00000442563.2:p.Ser178Tyr
ENST00000578997.1:c.224+96C>A (POLG2)	ENSP00000464389.1:n.224+96C>A
ENST00000585141.5:n.584C>A (POLG2)
NM_007215.3:c.533C>A (POLG2)	NP_009146.2:p.Ser178Tyr
XM_006721651.2:c.533C>A (POLG2)	XP_006721714.1:p.Ser178Tyr
XR_243630.1:n.584C>A (POLG2)
XR_934357.1:n.584C>A (POLG2)
XR_934358.1:n.584C>A (POLG2)
XM_024450708.1:c.*144G>T (MILR1)	XP_024306476.1:n.*144G>T
XR_002957990.1:n.1386G>T (MILR1)
NM_007215.4:c.533C>A (POLG2) MANE Select	NP_009146.2:p.Ser178Tyr