Canonical Allele Identifier: CA288982

Gene: POLG

Linked Data

• ClinVar Variation Id: 129990
• ClinVar RCV Id: RCV000118012 ; RCV000460792 ; RCV001121412
• dbSNP Id: rs2307429
• ExAC: 15:89867094 G / T
• gnomAD v2: 15-89867094-G-T
• gnomAD v3: 15-89323863-G-T
• gnomAD v4: 15-89323863-G-T
• MyVariant Identifiers: chr15:g.89867094G>T (hg19) ; chr15:g.89323863G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323863G>T , CM000677.2:g.89323863G>T	GRCh38
NC_000015.9:g.89867094G>T , CM000677.1:g.89867094G>T	GRCh37
NC_000015.8:g.87668098G>T	NCBI36
NG_008218.1:g.15933C>A
NG_008218.2:g.15933C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2109C>A	ENSP00000516154.1:p.Ala703=
ENST00000268124.11:c.2109C>A MANE Select	ENSP00000268124.5:p.Ala703=
ENST00000530292.3:c.1710C>A	ENSP00000432885.2:p.Ala570=
ENST00000635986.2:c.2109C>A	ENSP00000490653.2:p.Ala703=
ENST00000636774.1:c.*676C>A	ENSP00000489799.1:n.*676C>A
ENST00000637238.1:c.806C>A	ENSP00000490756.1:n.806C>A
ENST00000637264.1:c.1181C>A
ENST00000666746.1:c.1686C>A
ENST00000670281.1:c.429C>A	ENSP00000499709.1:p.Ala143=
ENST00000672071.1:n.2307C>A
ENST00000672923.2:n.2212C>A
ENST00000268124.9:c.2109C>A	ENSP00000268124.5:p.Ala703=
ENST00000442287.6:c.2109C>A	ENSP00000399851.2:p.Ala703=
ENST00000526314.2:c.491C>A
ENST00000526398.1:c.258C>A
ENST00000526573.1:n.195C>A
ENST00000532584.5:n.311C>A
ENST00000533857.1:n.224C>A
ENST00000631044.2:c.*1492C>A	ENSP00000486730.1:n.*1492C>A
NM_001126131.1:c.2109C>A	NP_001119603.1:p.Ala703=
NM_002693.2:c.2109C>A	NP_002684.1:p.Ala703=
NM_001126131.2:c.2109C>A	NP_001119603.1:p.Ala703=
NM_002693.3:c.2109C>A MANE Select	NP_002684.1:p.Ala703=