Canonical Allele Identifier: CA393757382

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89324105A>C , CM000677.2:g.89324105A>C	GRCh38
NC_000015.9:g.89867336A>C , CM000677.1:g.89867336A>C	GRCh37
NC_000015.8:g.87668340A>C	NCBI36
NG_008218.1:g.15691T>G
NG_008218.2:g.15691T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2070+2T>G MANE Select	NP_002684.1:n.2070+2T>G
ENST00000268124.11:c.2070+2T>G MANE Select	ENSP00000268124.5:n.2070+2T>G
NM_001126131.1:c.2070+2T>G	NP_001119603.1:n.2070+2T>G
NM_001126131.2:c.2070+2T>G	NP_001119603.1:n.2070+2T>G
NM_002693.2:c.2070+2T>G	NP_002684.1:n.2070+2T>G
ENST00000268124.9:c.2070+2T>G	ENSP00000268124.5:n.2070+2T>G
ENST00000442287.6:c.2070+2T>G	ENSP00000399851.2:n.2070+2T>G
ENST00000526314.2:c.452+2T>G
ENST00000526398.1:c.219+2T>G
ENST00000526573.1:n.156+2T>G
ENST00000530292.3:c.1671+2T>G	ENSP00000432885.2:n.1671+2T>G
ENST00000532584.5:n.272+2T>G
ENST00000533857.1:n.185+2T>G
ENST00000631044.2:c.*1453+2T>G	ENSP00000486730.1:n.*1453+2T>G
ENST00000635986.2:c.2070+2T>G	ENSP00000490653.2:n.2070+2T>G
ENST00000636774.1:c.*637+2T>G	ENSP00000489799.1:n.*637+2T>G
ENST00000636937.2:c.2070+2T>G	ENSP00000516154.1:n.2070+2T>G
ENST00000637238.1:c.767+2T>G	ENSP00000490756.1:n.767+2T>G
ENST00000637264.1:c.1142+2T>G
ENST00000666746.1:c.1647+2T>G
ENST00000670281.1:c.390+2T>G	ENSP00000499709.1:n.390+2T>G
ENST00000672071.1:n.2268+2T>G
ENST00000672923.2:n.2173+2T>G