Canonical Allele Identifier: CA492078469

Gene: POLG

Linked Data

• ClinVar Variation Id: 761796
• ClinVar RCV Id: RCV001505951
• dbSNP Id: rs1383637569
• gnomAD v2: 15-89872291-T-C
• gnomAD v4: 15-89329060-T-C
• MyVariant Identifiers: chr15:g.89872291T>C (hg19) ; chr15:g.89329060T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329060T>C , CM000677.2:g.89329060T>C	GRCh38
NC_000015.9:g.89872291T>C , CM000677.1:g.89872291T>C	GRCh37
NC_000015.8:g.87673295T>C	NCBI36
NG_008218.1:g.10736A>G
NG_008218.2:g.10736A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.906A>G	ENSP00000516154.1:p.Ser302=
ENST00000268124.11:c.906A>G MANE Select	ENSP00000268124.5:p.Ser302=
ENST00000530292.3:c.507A>G	ENSP00000432885.2:p.Ser169=
ENST00000635986.2:c.906A>G	ENSP00000490653.2:p.Ser302=
ENST00000636774.1:c.906A>G	ENSP00000489799.1:p.Ser302=
ENST00000666746.1:c.563A>G
ENST00000672071.1:n.1104A>G
ENST00000268124.9:c.906A>G	ENSP00000268124.5:p.Ser302=
ENST00000442287.6:c.906A>G	ENSP00000399851.2:p.Ser302=
ENST00000631044.2:c.*289A>G	ENSP00000486730.1:n.*289A>G
NM_001126131.1:c.906A>G	NP_001119603.1:p.Ser302=
NM_002693.2:c.906A>G	NP_002684.1:p.Ser302=
NM_001126131.2:c.906A>G	NP_001119603.1:p.Ser302=
NM_002693.3:c.906A>G MANE Select	NP_002684.1:p.Ser302=