Canonical Allele Identifier: CA2194549793

Gene: POLG

Linked Data

• dbSNP Id: rs2055396384

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321551_89321552dup , CM000677.2:g.89321551_89321552dup	GRCh38
NC_000015.9:g.89864782_89864783dup , CM000677.1:g.89864782_89864783dup	GRCh37
NC_000015.8:g.87665786_87665787dup	NCBI36
NG_008218.1:g.18244_18245dup
NG_008218.2:g.18244_18245dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2598+184_2598+185dup	ENSP00000516154.1:n.2598+184_2598+185dup
ENST00000268124.11:c.2598+184_2598+185dup MANE Select	ENSP00000268124.5:n.2598+184_2598+185dup
ENST00000530292.3:c.2199+184_2199+185dup	ENSP00000432885.2:n.2199+184_2199+185dup
ENST00000635986.2:c.2598+184_2598+185dup	ENSP00000490653.2:n.2598+184_2598+185dup
ENST00000636774.1:c.*1165+184_*1165+185dup	ENSP00000489799.1:n.*1165+184_*1165+185dup
ENST00000637238.1:c.1295+184_1295+185dup	ENSP00000490756.1:n.1295+184_1295+185dup
ENST00000637264.1:c.1670+184_1670+185dup
ENST00000666746.1:c.2175+184_2175+185dup
ENST00000670281.1:c.800+410_800+411dup	ENSP00000499709.1:n.800+410_800+411dup
ENST00000672071.1:n.2796+184_2796+185dup
ENST00000672923.2:n.2540+184_2540+185dup
ENST00000268124.9:c.2598+184_2598+185dup	ENSP00000268124.5:n.2598+184_2598+185dup
ENST00000442287.6:c.2598+184_2598+185dup	ENSP00000399851.2:n.2598+184_2598+185dup
ENST00000528881.2:c.196-292_196-291dup
ENST00000530715.5:c.186-683_186-682dup	ENSP00000431395.1:n.186-683_186-682dup
ENST00000631044.2:c.*2022+184_*2022+185dup	ENSP00000486730.1:n.*2022+184_*2022+185dup
NM_001126131.1:c.2598+184_2598+185dup	NP_001119603.1:n.2598+184_2598+185dup
NM_002693.2:c.2598+184_2598+185dup	NP_002684.1:n.2598+184_2598+185dup
NM_001126131.2:c.2598+184_2598+185dup	NP_001119603.1:n.2598+184_2598+185dup
NM_002693.3:c.2598+184_2598+185dup MANE Select	NP_002684.1:n.2598+184_2598+185dup