Canonical Allele Identifier: CA2695197350

Gene: POLG

Linked Data

• ClinVar Variation Id: 2677956
• ClinVar RCV Id: RCV003471716

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329082dup , CM000677.2:g.89329082dup	GRCh38
NC_000015.9:g.89872313dup , CM000677.1:g.89872313dup	GRCh37
NC_000015.8:g.87673317dup	NCBI36
NG_008218.1:g.10714dup
NG_008218.2:g.10714dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.884dup	ENSP00000516154.1:p.Met295IlefsTer?
ENST00000268124.11:c.884dup MANE Select	ENSP00000268124.5:p.Met295IlefsTer?
ENST00000530292.3:c.485dup	ENSP00000432885.2:p.Met162IlefsTer?
ENST00000635986.2:c.884dup	ENSP00000490653.2:p.Met295IlefsTer?
ENST00000636774.1:c.884dup	ENSP00000489799.1:p.Met295IlefsTer?
ENST00000666746.1:c.541dup
ENST00000672071.1:n.1082dup
ENST00000268124.9:c.884dup	ENSP00000268124.5:p.Met295IlefsTer?
ENST00000442287.6:c.884dup	ENSP00000399851.2:p.Met295IlefsTer?
ENST00000631044.2:c.*267dup	ENSP00000486730.1:n.*267dup
NM_001126131.1:c.884dup	NP_001119603.1:p.Met295IlefsTer?
NM_002693.2:c.884dup	NP_002684.1:p.Met295IlefsTer?
NM_001126131.2:c.884dup	NP_001119603.1:p.Met295IlefsTer?
NM_002693.3:c.884dup MANE Select	NP_002684.1:p.Met295IlefsTer?